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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: 1-92607671-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=92607671&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 92607671,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000684568.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1884G>T",
"hgvs_p": "p.Gln628His",
"transcript": "NM_001350197.2",
"protein_id": "NP_001337126.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 826,
"cds_start": 1884,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2238,
"cdna_end": null,
"cdna_length": 7795,
"mane_select": "ENST00000684568.2",
"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": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1884G>T",
"hgvs_p": "p.Gln628His",
"transcript": "ENST00000684568.2",
"protein_id": "ENSP00000506999.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 826,
"cds_start": 1884,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2238,
"cdna_end": null,
"cdna_length": 7795,
"mane_select": "NM_001350197.2",
"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": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1869G>T",
"hgvs_p": "p.Gln623His",
"transcript": "ENST00000540033.3",
"protein_id": "ENSP00000440826.2",
"transcript_support_level": 1,
"aa_start": 623,
"aa_end": null,
"aa_length": 821,
"cds_start": 1869,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 1869,
"cdna_end": null,
"cdna_length": 2466,
"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": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1836G>T",
"hgvs_p": "p.Gln612His",
"transcript": "ENST00000370331.5",
"protein_id": "ENSP00000359356.1",
"transcript_support_level": 1,
"aa_start": 612,
"aa_end": null,
"aa_length": 810,
"cds_start": 1836,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 7403,
"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": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1884G>T",
"hgvs_p": "p.Gln628His",
"transcript": "ENST00000706846.1",
"protein_id": "ENSP00000516588.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 826,
"cds_start": 1884,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 8056,
"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": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1869G>T",
"hgvs_p": "p.Gln623His",
"transcript": "NM_001308248.2",
"protein_id": "NP_001295177.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 821,
"cds_start": 1869,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 7442,
"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": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1860G>T",
"hgvs_p": "p.Gln620His",
"transcript": "NM_001377210.1",
"protein_id": "NP_001364139.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 818,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 2673,
"cdna_end": null,
"cdna_length": 8230,
"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": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1860G>T",
"hgvs_p": "p.Gln620His",
"transcript": "ENST00000706843.1",
"protein_id": "ENSP00000516584.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 818,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 2490,
"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": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1836G>T",
"hgvs_p": "p.Gln612His",
"transcript": "NM_005665.6",
"protein_id": "NP_005656.4",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 810,
"cds_start": 1836,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1852,
"cdna_end": null,
"cdna_length": 7409,
"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": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1749G>T",
"hgvs_p": "p.Gln583His",
"transcript": "ENST00000706885.1",
"protein_id": "ENSP00000516601.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 781,
"cds_start": 1749,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 1832,
"cdna_end": null,
"cdna_length": 7389,
"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": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1842G>T",
"hgvs_p": "p.Gln614His",
"transcript": "NM_001377211.1",
"protein_id": "NP_001364140.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 780,
"cds_start": 1842,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2196,
"cdna_end": null,
"cdna_length": 7657,
"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": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1737G>T",
"hgvs_p": "p.Gln579His",
"transcript": "NM_001377212.1",
"protein_id": "NP_001364141.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 777,
"cds_start": 1737,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2091,
"cdna_end": null,
"cdna_length": 7648,
"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": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1965G>T",
"hgvs_p": "p.Gln655His",
"transcript": "NM_001377213.1",
"protein_id": "NP_001364142.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 768,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 2319,
"cdna_end": null,
"cdna_length": 7886,
"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": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1965G>T",
"hgvs_p": "p.Gln655His",
"transcript": "ENST00000706867.1",
"protein_id": "ENSP00000516594.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 768,
"cds_start": 1965,
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"cdna_start": 2319,
"cdna_end": null,
"cdna_length": 3443,
"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": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1884G>T",
"hgvs_p": "p.Gln628His",
"transcript": "NM_001350198.2",
"protein_id": "NP_001337127.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 741,
"cds_start": 1884,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2238,
"cdna_end": null,
"cdna_length": 7805,
"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": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1884G>T",
"hgvs_p": "p.Gln628His",
"transcript": "ENST00000706868.1",
"protein_id": "ENSP00000516595.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 741,
"cds_start": 1884,
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"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 2923,
"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": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.2097G>T",
"hgvs_p": "p.Gln699His",
"transcript": "XM_017002269.2",
"protein_id": "XP_016857758.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 930,
"cds_start": 2097,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2113,
"cdna_end": null,
"cdna_length": 2897,
"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": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.2088G>T",
"hgvs_p": "p.Gln696His",
"transcript": "XM_017002270.3",
"protein_id": "XP_016857759.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 927,
"cds_start": 2088,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 2901,
"cdna_end": null,
"cdna_length": 3685,
"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": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.2016G>T",
"hgvs_p": "p.Gln672His",
"transcript": "XM_017002271.3",
"protein_id": "XP_016857760.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 903,
"cds_start": 2016,
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"cdna_start": 2032,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.2007G>T",
"hgvs_p": "p.Gln669His",
"transcript": "XM_047430040.1",
"protein_id": "XP_047285996.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 900,
"cds_start": 2007,
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"cds_length": 2703,
"cdna_start": 2820,
"cdna_end": null,
"cdna_length": 3604,
"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": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.2097G>T",
"hgvs_p": "p.Gln699His",
"transcript": "XM_017002272.2",
"protein_id": "XP_016857761.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 897,
"cds_start": 2097,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2113,
"cdna_end": null,
"cdna_length": 2798,
"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": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1965G>T",
"hgvs_p": "p.Gln655His",
"transcript": "XM_017002273.3",
"protein_id": "XP_016857762.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 886,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2319,
"cdna_end": null,
"cdna_length": 3103,
"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": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
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"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
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}
],
"message": null
}