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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: 1-205070463-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=205070463&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 205070463,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000331830.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "c.2469G>A",
"hgvs_p": "p.Gly823Gly",
"transcript": "NM_005076.5",
"protein_id": "NP_005067.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2469,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 2738,
"cdna_end": null,
"cdna_length": 7916,
"mane_select": "ENST00000331830.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "c.2469G>A",
"hgvs_p": "p.Gly823Gly",
"transcript": "ENST00000331830.7",
"protein_id": "ENSP00000330633.4",
"transcript_support_level": 1,
"aa_start": 823,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2469,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 2738,
"cdna_end": null,
"cdna_length": 7916,
"mane_select": "NM_005076.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "c.2469G>A",
"hgvs_p": "p.Gly823Gly",
"transcript": "ENST00000640428.1",
"protein_id": "ENSP00000491474.1",
"transcript_support_level": 5,
"aa_start": 823,
"aa_end": null,
"aa_length": 1085,
"cds_start": 2469,
"cds_end": null,
"cds_length": 3258,
"cdna_start": 2754,
"cdna_end": null,
"cdna_length": 4146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "c.2469G>A",
"hgvs_p": "p.Gly823Gly",
"transcript": "NM_001346083.2",
"protein_id": "NP_001333012.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2469,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 2649,
"cdna_end": null,
"cdna_length": 7827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "c.2469G>A",
"hgvs_p": "p.Gly823Gly",
"transcript": "ENST00000638378.1",
"protein_id": "ENSP00000492617.1",
"transcript_support_level": 5,
"aa_start": 823,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2469,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 2630,
"cdna_end": null,
"cdna_length": 4447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "c.1938G>A",
"hgvs_p": "p.Gly646Gly",
"transcript": "ENST00000636312.2",
"protein_id": "ENSP00000489754.2",
"transcript_support_level": 5,
"aa_start": 646,
"aa_end": null,
"aa_length": 1010,
"cds_start": 1938,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 1939,
"cdna_end": null,
"cdna_length": 7112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "c.705G>A",
"hgvs_p": "p.Gly235Gly",
"transcript": "ENST00000638577.1",
"protein_id": "ENSP00000492457.1",
"transcript_support_level": 5,
"aa_start": 235,
"aa_end": null,
"aa_length": 526,
"cds_start": 705,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 2840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "c.2469G>A",
"hgvs_p": "p.Gly823Gly",
"transcript": "XM_047429102.1",
"protein_id": "XP_047285058.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 1187,
"cds_start": 2469,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 2738,
"cdna_end": null,
"cdna_length": 8244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "c.2469G>A",
"hgvs_p": "p.Gly823Gly",
"transcript": "XM_047429104.1",
"protein_id": "XP_047285060.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 1187,
"cds_start": 2469,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 2649,
"cdna_end": null,
"cdna_length": 8155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "c.2454G>A",
"hgvs_p": "p.Gly818Gly",
"transcript": "XM_017002199.3",
"protein_id": "XP_016857688.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 1182,
"cds_start": 2454,
"cds_end": null,
"cds_length": 3549,
"cdna_start": 2941,
"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": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.2461G>A",
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.1351G>A",
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.3388G>A",
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.845G>A",
"hgvs_p": null,
"transcript": "ENST00000638050.2",
"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": 1048,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.742G>A",
"hgvs_p": null,
"transcript": "ENST00000638715.1",
"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": 2903,
"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": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.2160G>A",
"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,
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"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": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.*115G>A",
"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": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.2469G>A",
"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": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.2405G>A",
"hgvs_p": null,
"transcript": "ENST00000639354.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2798,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.628G>A",
"hgvs_p": null,
"transcript": "ENST00000639788.1",
"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": 2981,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.*793G>A",
"hgvs_p": null,
"transcript": "ENST00000639843.1",
"protein_id": "ENSP00000491680.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2957,
"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": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.*115G>A",
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN2",
"gene_hgnc_id": 2172,
"hgvs_c": "n.96G>A",
"hgvs_p": null,
"transcript": "ENST00000640227.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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],
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{
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"verdict": "Benign",
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"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Epilepsy, familial adult myoclonic, 5",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}