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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: 8-19405861-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=19405861&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 19405861,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000692225.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Gln506His",
"transcript": "NM_001354483.2",
"protein_id": "NP_001341412.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 532,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2001,
"cdna_end": null,
"cdna_length": 3701,
"mane_select": "ENST00000692225.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Gln506His",
"transcript": "ENST00000692225.2",
"protein_id": "ENSP00000509853.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 532,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2001,
"cdna_end": null,
"cdna_length": 3701,
"mane_select": "NM_001354483.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Gln506His",
"transcript": "ENST00000332246.10",
"protein_id": "ENSP00000330805.6",
"transcript_support_level": 1,
"aa_start": 506,
"aa_end": null,
"aa_length": 532,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2172,
"cdna_end": null,
"cdna_length": 3872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Gln506His",
"transcript": "ENST00000454498.6",
"protein_id": "ENSP00000411816.2",
"transcript_support_level": 1,
"aa_start": 506,
"aa_end": null,
"aa_length": 532,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2532,
"cdna_end": null,
"cdna_length": 4232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Gln506His",
"transcript": "ENST00000522854.5",
"protein_id": "ENSP00000429809.1",
"transcript_support_level": 1,
"aa_start": 506,
"aa_end": null,
"aa_length": 532,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1909,
"cdna_end": null,
"cdna_length": 1990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Gln506His",
"transcript": "NM_001130518.2",
"protein_id": "NP_001123990.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 532,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2266,
"cdna_end": null,
"cdna_length": 3966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Gln506His",
"transcript": "NM_001354475.2",
"protein_id": "NP_001341404.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 532,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2108,
"cdna_end": null,
"cdna_length": 3808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Gln506His",
"transcript": "NM_001354476.2",
"protein_id": "NP_001341405.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 532,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1968,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Gln506His",
"transcript": "NM_001354477.2",
"protein_id": "NP_001341406.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 532,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2123,
"cdna_end": null,
"cdna_length": 3823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Gln506His",
"transcript": "NM_001354480.2",
"protein_id": "NP_001341409.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 532,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2271,
"cdna_end": null,
"cdna_length": 3971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Gln506His",
"transcript": "NM_001354481.2",
"protein_id": "NP_001341410.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 532,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2128,
"cdna_end": null,
"cdna_length": 3828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Gln506His",
"transcript": "NM_001354484.2",
"protein_id": "NP_001341413.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 532,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 3841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Gln506His",
"transcript": "NM_001354485.2",
"protein_id": "NP_001341414.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 532,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 3856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Gln506His",
"transcript": "NM_001354487.2",
"protein_id": "NP_001341416.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 532,
"cds_start": 1518,
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"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 3861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Gln506His",
"transcript": "NM_001354488.2",
"protein_id": "NP_001341417.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 532,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2112,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Gln506His",
"transcript": "NM_001354489.2",
"protein_id": "NP_001341418.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 532,
"cds_start": 1518,
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"cdna_start": 2153,
"cdna_end": null,
"cdna_length": 3853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Gln506His",
"transcript": "NM_001354490.2",
"protein_id": "NP_001341419.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 532,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2543,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Gln506His",
"transcript": "NM_001354491.2",
"protein_id": "NP_001341420.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 532,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2426,
"cdna_end": null,
"cdna_length": 4126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Gln506His",
"transcript": "NM_001354492.2",
"protein_id": "NP_001341421.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 532,
"cds_start": 1518,
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"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 3847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Gln506His",
"transcript": "NM_001354494.2",
"protein_id": "NP_001341423.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 532,
"cds_start": 1518,
"cds_end": null,
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"cdna_start": 2299,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Gln506His",
"transcript": "NM_001354495.2",
"protein_id": "NP_001341424.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 532,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2307,
"cdna_end": null,
"cdna_length": 4007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1518G>C",
"hgvs_p": "p.Gln506His",
"transcript": "NM_001354496.2",
"protein_id": "NP_001341425.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 532,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2302,
"cdna_end": null,
"cdna_length": 4002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
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}
],
"message": null
}