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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: 16-16083418-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=16083418&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 16083418,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004996.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2168G>A",
"hgvs_p": "p.Arg723Gln",
"transcript": "NM_004996.4",
"protein_id": "NP_004987.2",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1531,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000399410.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004996.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2168G>A",
"hgvs_p": "p.Arg723Gln",
"transcript": "ENST00000399410.8",
"protein_id": "ENSP00000382342.3",
"transcript_support_level": 1,
"aa_start": 723,
"aa_end": null,
"aa_length": 1531,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004996.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399410.8"
},
{
"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": 30,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2116-3406G>A",
"hgvs_p": null,
"transcript": "ENST00000572882.3",
"protein_id": "ENSP00000461615.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1472,
"cds_start": null,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572882.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2324G>A",
"hgvs_p": "p.Arg775Gln",
"transcript": "ENST00000914156.1",
"protein_id": "ENSP00000584215.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 1583,
"cds_start": 2324,
"cds_end": null,
"cds_length": 4752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914156.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2168G>A",
"hgvs_p": "p.Arg723Gln",
"transcript": "ENST00000399408.7",
"protein_id": "ENSP00000382340.4",
"transcript_support_level": 5,
"aa_start": 723,
"aa_end": null,
"aa_length": 1541,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399408.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2324G>A",
"hgvs_p": "p.Arg775Gln",
"transcript": "ENST00000914151.1",
"protein_id": "ENSP00000584210.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 1527,
"cds_start": 2324,
"cds_end": null,
"cds_length": 4584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914151.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2126G>A",
"hgvs_p": "p.Arg709Gln",
"transcript": "ENST00000914157.1",
"protein_id": "ENSP00000584216.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 1517,
"cds_start": 2126,
"cds_end": null,
"cds_length": 4554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914157.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2042G>A",
"hgvs_p": "p.Arg681Gln",
"transcript": "NM_019901.2",
"protein_id": "NP_063956.2",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 1489,
"cds_start": 2042,
"cds_end": null,
"cds_length": 4470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019901.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2042G>A",
"hgvs_p": "p.Arg681Gln",
"transcript": "ENST00000914139.1",
"protein_id": "ENSP00000584198.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 1489,
"cds_start": 2042,
"cds_end": null,
"cds_length": 4470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914139.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2030G>A",
"hgvs_p": "p.Arg677Gln",
"transcript": "ENST00000914141.1",
"protein_id": "ENSP00000584200.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 1485,
"cds_start": 2030,
"cds_end": null,
"cds_length": 4458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914141.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2021G>A",
"hgvs_p": "p.Arg674Gln",
"transcript": "NM_019902.2",
"protein_id": "NP_063957.2",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 1482,
"cds_start": 2021,
"cds_end": null,
"cds_length": 4449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019902.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2021G>A",
"hgvs_p": "p.Arg674Gln",
"transcript": "ENST00000914140.1",
"protein_id": "ENSP00000584199.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 1482,
"cds_start": 2021,
"cds_end": null,
"cds_length": 4449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914140.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2168G>A",
"hgvs_p": "p.Arg723Gln",
"transcript": "NM_019898.3",
"protein_id": "NP_063953.2",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1475,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019898.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2168G>A",
"hgvs_p": "p.Arg723Gln",
"transcript": "ENST00000914143.1",
"protein_id": "ENSP00000584202.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1475,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914143.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2168G>A",
"hgvs_p": "p.Arg723Gln",
"transcript": "NM_001438755.1",
"protein_id": "NP_001425684.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1466,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438755.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2168G>A",
"hgvs_p": "p.Arg723Gln",
"transcript": "ENST00000914148.1",
"protein_id": "ENSP00000584207.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1466,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914148.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1904G>A",
"hgvs_p": "p.Arg635Gln",
"transcript": "ENST00000914142.1",
"protein_id": "ENSP00000584201.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 1443,
"cds_start": 1904,
"cds_end": null,
"cds_length": 4332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914142.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1895G>A",
"hgvs_p": "p.Arg632Gln",
"transcript": "NM_001438715.1",
"protein_id": "NP_001425644.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 1440,
"cds_start": 1895,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438715.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1895G>A",
"hgvs_p": "p.Arg632Gln",
"transcript": "ENST00000914149.1",
"protein_id": "ENSP00000584208.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 1440,
"cds_start": 1895,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914149.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1883G>A",
"hgvs_p": "p.Arg628Gln",
"transcript": "ENST00000914153.1",
"protein_id": "ENSP00000584212.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 1436,
"cds_start": 1883,
"cds_end": null,
"cds_length": 4311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914153.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2042G>A",
"hgvs_p": "p.Arg681Gln",
"transcript": "ENST00000958977.1",
"protein_id": "ENSP00000629036.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 1433,
"cds_start": 2042,
"cds_end": null,
"cds_length": 4302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958977.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2030G>A",
"hgvs_p": "p.Arg677Gln",
"transcript": "ENST00000958974.1",
"protein_id": "ENSP00000629033.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 1429,
"cds_start": 2030,
"cds_end": null,
"cds_length": 4290,
"cdna_start": null,
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}