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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: 9-2804393-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=2804393&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 2804393,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014878.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM3",
"gene_hgnc_id": 29676,
"hgvs_c": "c.1885T>G",
"hgvs_p": "p.Leu629Val",
"transcript": "NM_014878.5",
"protein_id": "NP_055693.4",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 648,
"cds_start": 1885,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397885.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014878.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM3",
"gene_hgnc_id": 29676,
"hgvs_c": "c.1885T>G",
"hgvs_p": "p.Leu629Val",
"transcript": "ENST00000397885.3",
"protein_id": "ENSP00000380982.2",
"transcript_support_level": 1,
"aa_start": 629,
"aa_end": null,
"aa_length": 648,
"cds_start": 1885,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014878.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397885.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM3",
"gene_hgnc_id": 29676,
"hgvs_c": "c.2005T>G",
"hgvs_p": "p.Leu669Val",
"transcript": "ENST00000861029.1",
"protein_id": "ENSP00000531088.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 688,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861029.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM3",
"gene_hgnc_id": 29676,
"hgvs_c": "c.2005T>G",
"hgvs_p": "p.Leu669Val",
"transcript": "ENST00000922208.1",
"protein_id": "ENSP00000592267.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 688,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922208.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM3",
"gene_hgnc_id": 29676,
"hgvs_c": "c.1885T>G",
"hgvs_p": "p.Leu629Val",
"transcript": "ENST00000861028.1",
"protein_id": "ENSP00000531087.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 648,
"cds_start": 1885,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861028.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM3",
"gene_hgnc_id": 29676,
"hgvs_c": "c.1885T>G",
"hgvs_p": "p.Leu629Val",
"transcript": "ENST00000861034.1",
"protein_id": "ENSP00000531093.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 648,
"cds_start": 1885,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861034.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM3",
"gene_hgnc_id": 29676,
"hgvs_c": "c.1885T>G",
"hgvs_p": "p.Leu629Val",
"transcript": "ENST00000861035.1",
"protein_id": "ENSP00000531094.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 648,
"cds_start": 1885,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861035.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM3",
"gene_hgnc_id": 29676,
"hgvs_c": "c.1885T>G",
"hgvs_p": "p.Leu629Val",
"transcript": "ENST00000861036.1",
"protein_id": "ENSP00000531095.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 648,
"cds_start": 1885,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861036.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM3",
"gene_hgnc_id": 29676,
"hgvs_c": "c.1885T>G",
"hgvs_p": "p.Leu629Val",
"transcript": "ENST00000922205.1",
"protein_id": "ENSP00000592264.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 648,
"cds_start": 1885,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922205.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM3",
"gene_hgnc_id": 29676,
"hgvs_c": "c.1885T>G",
"hgvs_p": "p.Leu629Val",
"transcript": "ENST00000922206.1",
"protein_id": "ENSP00000592265.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 648,
"cds_start": 1885,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922206.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM3",
"gene_hgnc_id": 29676,
"hgvs_c": "c.1885T>G",
"hgvs_p": "p.Leu629Val",
"transcript": "ENST00000922207.1",
"protein_id": "ENSP00000592266.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 648,
"cds_start": 1885,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922207.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM3",
"gene_hgnc_id": 29676,
"hgvs_c": "c.1885T>G",
"hgvs_p": "p.Leu629Val",
"transcript": "ENST00000922209.1",
"protein_id": "ENSP00000592268.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 648,
"cds_start": 1885,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922209.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM3",
"gene_hgnc_id": 29676,
"hgvs_c": "c.1885T>G",
"hgvs_p": "p.Leu629Val",
"transcript": "ENST00000922212.1",
"protein_id": "ENSP00000592271.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 648,
"cds_start": 1885,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922212.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM3",
"gene_hgnc_id": 29676,
"hgvs_c": "c.1885T>G",
"hgvs_p": "p.Leu629Val",
"transcript": "ENST00000922213.1",
"protein_id": "ENSP00000592272.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 648,
"cds_start": 1885,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922213.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM3",
"gene_hgnc_id": 29676,
"hgvs_c": "c.1885T>G",
"hgvs_p": "p.Leu629Val",
"transcript": "ENST00000922215.1",
"protein_id": "ENSP00000592274.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 648,
"cds_start": 1885,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922215.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM3",
"gene_hgnc_id": 29676,
"hgvs_c": "c.1885T>G",
"hgvs_p": "p.Leu629Val",
"transcript": "ENST00000922216.1",
"protein_id": "ENSP00000592275.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 648,
"cds_start": 1885,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922216.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM3",
"gene_hgnc_id": 29676,
"hgvs_c": "c.1885T>G",
"hgvs_p": "p.Leu629Val",
"transcript": "ENST00000922217.1",
"protein_id": "ENSP00000592276.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 648,
"cds_start": 1885,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922217.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM3",
"gene_hgnc_id": 29676,
"hgvs_c": "c.1882T>G",
"hgvs_p": "p.Leu628Val",
"transcript": "ENST00000861032.1",
"protein_id": "ENSP00000531091.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 647,
"cds_start": 1882,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861032.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM3",
"gene_hgnc_id": 29676,
"hgvs_c": "c.1882T>G",
"hgvs_p": "p.Leu628Val",
"transcript": "ENST00000922210.1",
"protein_id": "ENSP00000592269.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 647,
"cds_start": 1882,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922210.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM3",
"gene_hgnc_id": 29676,
"hgvs_c": "c.1879T>G",
"hgvs_p": "p.Leu627Val",
"transcript": "ENST00000954334.1",
"protein_id": "ENSP00000624393.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 646,
"cds_start": 1879,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954334.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM3",
"gene_hgnc_id": 29676,
"hgvs_c": "c.1861T>G",
"hgvs_p": "p.Leu621Val",
"transcript": "ENST00000954335.1",
"protein_id": "ENSP00000624394.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 640,
"cds_start": 1861,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954335.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM3",
"gene_hgnc_id": 29676,
"hgvs_c": "c.1804T>G",
"hgvs_p": "p.Leu602Val",
"transcript": "ENST00000861031.1",
"protein_id": "ENSP00000531090.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 621,
"cds_start": 1804,
"cds_end": null,
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}
],
"message": null
}