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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: 4-109740919-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=109740919&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 109740919,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001318057.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1726C>A",
"hgvs_p": "p.Pro576Thr",
"transcript": "NM_000204.5",
"protein_id": "NP_000195.3",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 583,
"cds_start": 1726,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394634.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000204.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1726C>A",
"hgvs_p": "p.Pro576Thr",
"transcript": "ENST00000394634.7",
"protein_id": "ENSP00000378130.2",
"transcript_support_level": 1,
"aa_start": 576,
"aa_end": null,
"aa_length": 583,
"cds_start": 1726,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000204.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394634.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285330",
"gene_hgnc_id": null,
"hgvs_c": "c.1534+1572C>A",
"hgvs_p": null,
"transcript": "ENST00000645635.1",
"protein_id": "ENSP00000493607.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": null,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645635.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1816C>A",
"hgvs_p": "p.Pro606Thr",
"transcript": "ENST00000963332.1",
"protein_id": "ENSP00000633391.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 613,
"cds_start": 1816,
"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": "ENST00000963332.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1774C>A",
"hgvs_p": "p.Pro592Thr",
"transcript": "ENST00000882821.1",
"protein_id": "ENSP00000552880.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 599,
"cds_start": 1774,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882821.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1750C>A",
"hgvs_p": "p.Pro584Thr",
"transcript": "NM_001318057.2",
"protein_id": "NP_001304986.2",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 591,
"cds_start": 1750,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318057.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1750C>A",
"hgvs_p": "p.Pro584Thr",
"transcript": "ENST00000394635.8",
"protein_id": "ENSP00000378131.3",
"transcript_support_level": 2,
"aa_start": 584,
"aa_end": null,
"aa_length": 591,
"cds_start": 1750,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394635.8"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1747C>A",
"hgvs_p": "p.Pro583Thr",
"transcript": "NM_001440986.1",
"protein_id": "NP_001427915.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 590,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440986.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1747C>A",
"hgvs_p": "p.Pro583Thr",
"transcript": "ENST00000882815.1",
"protein_id": "ENSP00000552874.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 590,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882815.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1744C>A",
"hgvs_p": "p.Pro582Thr",
"transcript": "ENST00000963333.1",
"protein_id": "ENSP00000633392.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 589,
"cds_start": 1744,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963333.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1741C>A",
"hgvs_p": "p.Pro581Thr",
"transcript": "ENST00000882818.1",
"protein_id": "ENSP00000552877.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 588,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882818.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1729C>A",
"hgvs_p": "p.Pro577Thr",
"transcript": "ENST00000882820.1",
"protein_id": "ENSP00000552879.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 584,
"cds_start": 1729,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882820.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1723C>A",
"hgvs_p": "p.Pro575Thr",
"transcript": "ENST00000963330.1",
"protein_id": "ENSP00000633389.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 582,
"cds_start": 1723,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963330.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1717C>A",
"hgvs_p": "p.Pro573Thr",
"transcript": "ENST00000963331.1",
"protein_id": "ENSP00000633390.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 580,
"cds_start": 1717,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963331.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1705C>A",
"hgvs_p": "p.Pro569Thr",
"transcript": "NM_001331035.2",
"protein_id": "NP_001317964.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 576,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331035.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1705C>A",
"hgvs_p": "p.Pro569Thr",
"transcript": "ENST00000512148.5",
"protein_id": "ENSP00000427438.1",
"transcript_support_level": 5,
"aa_start": 569,
"aa_end": null,
"aa_length": 576,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512148.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1702C>A",
"hgvs_p": "p.Pro568Thr",
"transcript": "ENST00000882817.1",
"protein_id": "ENSP00000552876.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 575,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882817.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1696C>A",
"hgvs_p": "p.Pro566Thr",
"transcript": "ENST00000882819.1",
"protein_id": "ENSP00000552878.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 573,
"cds_start": 1696,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882819.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"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": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1669C>A",
"hgvs_p": "p.Pro557Thr",
"transcript": "NM_001375283.1",
"protein_id": "NP_001362212.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 564,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375283.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"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": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1669C>A",
"hgvs_p": "p.Pro557Thr",
"transcript": "ENST00000882816.1",
"protein_id": "ENSP00000552875.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 564,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882816.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"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": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1594C>A",
"hgvs_p": "p.Pro532Thr",
"transcript": "ENST00000882822.1",
"protein_id": "ENSP00000552881.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 539,
"cds_start": 1594,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882822.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"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": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1117C>A",
"hgvs_p": "p.Pro373Thr",
"transcript": "NM_001375284.1",
"protein_id": "NP_001362213.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 380,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
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}
],
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}