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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: 2-1487841-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=1487841&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 1487841,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000329066.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Arg",
"transcript": "NM_001206744.2",
"protein_id": "NP_001193673.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 933,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 1702,
"cdna_end": null,
"cdna_length": 4085,
"mane_select": "ENST00000329066.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Arg",
"transcript": "ENST00000329066.9",
"protein_id": "ENSP00000329869.4",
"transcript_support_level": 1,
"aa_start": 540,
"aa_end": null,
"aa_length": 933,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 1702,
"cdna_end": null,
"cdna_length": 4085,
"mane_select": "NM_001206744.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Arg",
"transcript": "ENST00000345913.8",
"protein_id": "ENSP00000318820.7",
"transcript_support_level": 1,
"aa_start": 540,
"aa_end": null,
"aa_length": 933,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1099C>A",
"hgvs_p": "p.Arg367Arg",
"transcript": "ENST00000382198.5",
"protein_id": "ENSP00000371633.1",
"transcript_support_level": 1,
"aa_start": 367,
"aa_end": null,
"aa_length": 760,
"cds_start": 1099,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1597+2987C>A",
"hgvs_p": null,
"transcript": "ENST00000382201.7",
"protein_id": "ENSP00000371636.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 876,
"cds_start": -4,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "n.439+2987C>A",
"hgvs_p": null,
"transcript": "ENST00000497517.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 1311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Arg",
"transcript": "NM_000547.6",
"protein_id": "NP_000538.3",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 933,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 4090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Arg",
"transcript": "NM_175721.3",
"protein_id": "NP_783652.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 889,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Arg",
"transcript": "ENST00000346956.7",
"protein_id": "ENSP00000263886.6",
"transcript_support_level": 5,
"aa_start": 540,
"aa_end": null,
"aa_length": 889,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 2923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1405C>A",
"hgvs_p": "p.Arg469Arg",
"transcript": "ENST00000422464.5",
"protein_id": "ENSP00000405788.1",
"transcript_support_level": 2,
"aa_start": 469,
"aa_end": null,
"aa_length": 864,
"cds_start": 1405,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 5391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1099C>A",
"hgvs_p": "p.Arg367Arg",
"transcript": "NM_175722.3",
"protein_id": "NP_783653.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 760,
"cds_start": 1099,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1654C>A",
"hgvs_p": "p.Arg552Arg",
"transcript": "XM_024453085.2",
"protein_id": "XP_024308853.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 947,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 1880,
"cdna_end": null,
"cdna_length": 3983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1654C>A",
"hgvs_p": "p.Arg552Arg",
"transcript": "XM_011510380.4",
"protein_id": "XP_011508682.2",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 941,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 1880,
"cdna_end": null,
"cdna_length": 4133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Arg",
"transcript": "XM_024453087.2",
"protein_id": "XP_024308855.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 935,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 1702,
"cdna_end": null,
"cdna_length": 3805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Arg",
"transcript": "XM_024453088.2",
"protein_id": "XP_024308856.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 935,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 3810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Arg",
"transcript": "XM_024453089.2",
"protein_id": "XP_024308857.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 935,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2454,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Arg",
"transcript": "XM_047445652.1",
"protein_id": "XP_047301608.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 935,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 3365,
"cdna_end": null,
"cdna_length": 5468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Arg",
"transcript": "XM_047445653.1",
"protein_id": "XP_047301609.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 935,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2550,
"cdna_end": null,
"cdna_length": 4653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Arg",
"transcript": "XM_047445654.1",
"protein_id": "XP_047301610.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 935,
"cds_start": 1618,
"cds_end": null,
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"cdna_start": 3129,
"cdna_end": null,
"cdna_length": 5232,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Arg",
"transcript": "XM_047445655.1",
"protein_id": "XP_047301611.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 935,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 3314,
"cdna_end": null,
"cdna_length": 5417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Arg540Arg",
"transcript": "XM_047445656.1",
"protein_id": "XP_047301612.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 935,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 3120,
"cdna_end": null,
"cdna_length": 5223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1654C>A",
"hgvs_p": "p.Arg552Arg",
"transcript": "XM_024453090.2",
"protein_id": "XP_024308858.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 901,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2706,
"cdna_start": 1880,
"cdna_end": null,
"cdna_length": 4131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1654C>A",
"hgvs_p": "p.Arg552Arg",
"transcript": "XM_047445657.1",
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}