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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-205064425-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=205064425&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 205064425,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000331830.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "c.1344C>G",
"hgvs_p": "p.Ala448Ala",
"transcript": "NM_005076.5",
"protein_id": "NP_005067.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 1040,
"cds_start": 1344,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 7916,
"mane_select": "ENST00000331830.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "c.1344C>G",
"hgvs_p": "p.Ala448Ala",
"transcript": "ENST00000331830.7",
"protein_id": "ENSP00000330633.4",
"transcript_support_level": 1,
"aa_start": 448,
"aa_end": null,
"aa_length": 1040,
"cds_start": 1344,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 7916,
"mane_select": "NM_005076.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "c.1344C>G",
"hgvs_p": "p.Ala448Ala",
"transcript": "ENST00000640428.1",
"protein_id": "ENSP00000491474.1",
"transcript_support_level": 5,
"aa_start": 448,
"aa_end": null,
"aa_length": 1085,
"cds_start": 1344,
"cds_end": null,
"cds_length": 3258,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 4146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "c.1344C>G",
"hgvs_p": "p.Ala448Ala",
"transcript": "NM_001346083.2",
"protein_id": "NP_001333012.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 1040,
"cds_start": 1344,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 1524,
"cdna_end": null,
"cdna_length": 7827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "c.1344C>G",
"hgvs_p": "p.Ala448Ala",
"transcript": "ENST00000638378.1",
"protein_id": "ENSP00000492617.1",
"transcript_support_level": 5,
"aa_start": 448,
"aa_end": null,
"aa_length": 1040,
"cds_start": 1344,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 4447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "c.813C>G",
"hgvs_p": "p.Ala271Ala",
"transcript": "ENST00000636312.2",
"protein_id": "ENSP00000489754.2",
"transcript_support_level": 5,
"aa_start": 271,
"aa_end": null,
"aa_length": 1010,
"cds_start": 813,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 7112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "c.1344C>G",
"hgvs_p": "p.Ala448Ala",
"transcript": "XM_047429102.1",
"protein_id": "XP_047285058.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 1187,
"cds_start": 1344,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 8244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "c.1344C>G",
"hgvs_p": "p.Ala448Ala",
"transcript": "XM_047429104.1",
"protein_id": "XP_047285060.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 1187,
"cds_start": 1344,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 1524,
"cdna_end": null,
"cdna_length": 8155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "c.1329C>G",
"hgvs_p": "p.Ala443Ala",
"transcript": "XM_017002199.3",
"protein_id": "XP_016857688.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 1182,
"cds_start": 1329,
"cds_end": null,
"cds_length": 3549,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 8447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.1336C>G",
"hgvs_p": null,
"transcript": "ENST00000481872.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.226C>G",
"hgvs_p": null,
"transcript": "ENST00000525433.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.402C>G",
"hgvs_p": null,
"transcript": "ENST00000527340.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.527C>G",
"hgvs_p": null,
"transcript": "ENST00000530594.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.2263C>G",
"hgvs_p": null,
"transcript": "ENST00000636809.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.399C>G",
"hgvs_p": null,
"transcript": "ENST00000638449.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.388C>G",
"hgvs_p": null,
"transcript": "ENST00000638980.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.1035C>G",
"hgvs_p": null,
"transcript": "ENST00000639023.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.534C>G",
"hgvs_p": null,
"transcript": "ENST00000639122.1",
"protein_id": "ENSP00000491982.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.1344C>G",
"hgvs_p": null,
"transcript": "ENST00000639302.1",
"protein_id": "ENSP00000491671.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.1016C>G",
"hgvs_p": null,
"transcript": "ENST00000639503.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.1344C>G",
"hgvs_p": null,
"transcript": "ENST00000639971.1",
"protein_id": "ENSP00000491959.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.1344C>G",
"hgvs_p": null,
"transcript": "ENST00000640326.1",
"protein_id": "ENSP00000492495.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.*2142C>G",
"hgvs_p": null,
"transcript": "ENST00000640352.1",
"protein_id": "ENSP00000491080.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4000,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
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"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "CNTN2",
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"transcript": "NR_144350.2",
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
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"exon_count": 21,
"intron_rank": null,
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"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.*2142C>G",
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"transcript": "ENST00000640352.1",
"protein_id": "ENSP00000491080.1",
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_length": 4000,
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"mane_plus": null,
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"feature": null
}
],
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"dbsnp": "rs778178054",
"frequency_reference_population": 0.0000020539223,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205392,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7099999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.047,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000331830.7",
"gene_symbol": "CNTN2",
"hgnc_id": 2172,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1344C>G",
"hgvs_p": "p.Ala448Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}