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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: 9-129895909-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=129895909&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 129895909,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001438006.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1",
"gene_hgnc_id": 17069,
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Arg592Gln",
"transcript": "NM_015033.3",
"protein_id": "NP_055848.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 617,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000446176.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015033.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1",
"gene_hgnc_id": 17069,
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Arg592Gln",
"transcript": "ENST00000446176.7",
"protein_id": "ENSP00000413625.1",
"transcript_support_level": 1,
"aa_start": 592,
"aa_end": null,
"aa_length": 617,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015033.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446176.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1",
"gene_hgnc_id": 17069,
"hgvs_c": "c.1859G>A",
"hgvs_p": "p.Arg620Gln",
"transcript": "NM_001438006.1",
"protein_id": "NP_001424935.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 645,
"cds_start": 1859,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438006.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1",
"gene_hgnc_id": 17069,
"hgvs_c": "c.1859G>A",
"hgvs_p": "p.Arg620Gln",
"transcript": "ENST00000699492.1",
"protein_id": "ENSP00000514403.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 645,
"cds_start": 1859,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699492.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1",
"gene_hgnc_id": 17069,
"hgvs_c": "c.1844G>A",
"hgvs_p": "p.Arg615Gln",
"transcript": "NM_001439039.1",
"protein_id": "NP_001425968.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 644,
"cds_start": 1844,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439039.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1",
"gene_hgnc_id": 17069,
"hgvs_c": "c.1778G>A",
"hgvs_p": "p.Arg593Gln",
"transcript": "NM_001438159.1",
"protein_id": "NP_001425088.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 622,
"cds_start": 1778,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438159.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1",
"gene_hgnc_id": 17069,
"hgvs_c": "c.1778G>A",
"hgvs_p": "p.Arg593Gln",
"transcript": "ENST00000703559.1",
"protein_id": "ENSP00000515375.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 622,
"cds_start": 1778,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703559.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1",
"gene_hgnc_id": 17069,
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Arg592Gln",
"transcript": "NM_001438160.1",
"protein_id": "NP_001425089.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 621,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438160.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1",
"gene_hgnc_id": 17069,
"hgvs_c": "c.1778G>A",
"hgvs_p": "p.Arg593Gln",
"transcript": "ENST00000946016.1",
"protein_id": "ENSP00000616075.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 618,
"cds_start": 1778,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946016.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1",
"gene_hgnc_id": 17069,
"hgvs_c": "c.1763G>A",
"hgvs_p": "p.Arg588Gln",
"transcript": "NM_001438161.1",
"protein_id": "NP_001425090.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 617,
"cds_start": 1763,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438161.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1",
"gene_hgnc_id": 17069,
"hgvs_c": "c.1760G>A",
"hgvs_p": "p.Arg587Gln",
"transcript": "NM_001439040.1",
"protein_id": "NP_001425969.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 616,
"cds_start": 1760,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439040.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1",
"gene_hgnc_id": 17069,
"hgvs_c": "c.1760G>A",
"hgvs_p": "p.Arg587Gln",
"transcript": "ENST00000703532.1",
"protein_id": "ENSP00000515358.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 616,
"cds_start": 1760,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703532.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "FNBP1",
"gene_hgnc_id": 17069,
"hgvs_c": "c.1772G>A",
"hgvs_p": "p.Arg591Gln",
"transcript": "ENST00000703560.1",
"protein_id": "ENSP00000515376.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 613,
"cds_start": 1772,
"cds_end": null,
"cds_length": 1843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703560.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1",
"gene_hgnc_id": 17069,
"hgvs_c": "c.1763G>A",
"hgvs_p": "p.Arg588Gln",
"transcript": "NM_001439041.1",
"protein_id": "NP_001425970.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 613,
"cds_start": 1763,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439041.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1",
"gene_hgnc_id": 17069,
"hgvs_c": "c.1763G>A",
"hgvs_p": "p.Arg588Gln",
"transcript": "ENST00000907742.1",
"protein_id": "ENSP00000577801.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 613,
"cds_start": 1763,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907742.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1",
"gene_hgnc_id": 17069,
"hgvs_c": "c.1760G>A",
"hgvs_p": "p.Arg587Gln",
"transcript": "NM_001439042.1",
"protein_id": "NP_001425971.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 612,
"cds_start": 1760,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439042.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1",
"gene_hgnc_id": 17069,
"hgvs_c": "c.1760G>A",
"hgvs_p": "p.Arg587Gln",
"transcript": "ENST00000907739.1",
"protein_id": "ENSP00000577798.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 612,
"cds_start": 1760,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907739.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1",
"gene_hgnc_id": 17069,
"hgvs_c": "c.1745G>A",
"hgvs_p": "p.Arg582Gln",
"transcript": "NM_001439043.1",
"protein_id": "NP_001425972.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 611,
"cds_start": 1745,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439043.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1",
"gene_hgnc_id": 17069,
"hgvs_c": "c.1748G>A",
"hgvs_p": "p.Arg583Gln",
"transcript": "ENST00000946015.1",
"protein_id": "ENSP00000616074.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 608,
"cds_start": 1748,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946015.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1",
"gene_hgnc_id": 17069,
"hgvs_c": "c.1733G>A",
"hgvs_p": "p.Arg578Gln",
"transcript": "NM_001439044.1",
"protein_id": "NP_001425973.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 607,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439044.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1",
"gene_hgnc_id": 17069,
"hgvs_c": "c.1745G>A",
"hgvs_p": "p.Arg582Gln",
"transcript": "ENST00000946014.1",
"protein_id": "ENSP00000616073.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 607,
"cds_start": 1745,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946014.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1",
"gene_hgnc_id": 17069,
"hgvs_c": "c.1730G>A",
"hgvs_p": "p.Arg577Gln",
"transcript": "NM_001439045.1",
"protein_id": "NP_001425974.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 606,
"cds_start": 1730,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}