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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: 4-7967072-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=7967072&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 7967072,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001130083.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1856T>C",
"hgvs_p": "p.Val619Ala",
"transcript": "NM_001130083.2",
"protein_id": "NP_001123555.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 645,
"cds_start": 1856,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1980,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": "ENST00000447017.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130083.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1856T>C",
"hgvs_p": "p.Val619Ala",
"transcript": "ENST00000447017.7",
"protein_id": "ENSP00000393511.2",
"transcript_support_level": 1,
"aa_start": 619,
"aa_end": null,
"aa_length": 645,
"cds_start": 1856,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1980,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": "NM_001130083.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447017.7"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1754T>C",
"hgvs_p": "p.Val585Ala",
"transcript": "ENST00000341937.9",
"protein_id": "ENSP00000342813.5",
"transcript_support_level": 1,
"aa_start": 585,
"aa_end": null,
"aa_length": 611,
"cds_start": 1754,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1819,
"cdna_end": null,
"cdna_length": 2589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341937.9"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1637T>C",
"hgvs_p": "p.Val546Ala",
"transcript": "ENST00000361581.9",
"protein_id": "ENSP00000355003.5",
"transcript_support_level": 1,
"aa_start": 546,
"aa_end": null,
"aa_length": 572,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1702,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361581.9"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1484T>C",
"hgvs_p": "p.Val495Ala",
"transcript": "ENST00000407564.7",
"protein_id": "ENSP00000384658.3",
"transcript_support_level": 1,
"aa_start": 495,
"aa_end": null,
"aa_length": 521,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 2291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407564.7"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1976T>C",
"hgvs_p": "p.Val659Ala",
"transcript": "ENST00000710854.1",
"protein_id": "ENSP00000518527.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 685,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 2100,
"cdna_end": null,
"cdna_length": 3845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710854.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1871T>C",
"hgvs_p": "p.Val624Ala",
"transcript": "ENST00000545242.6",
"protein_id": "ENSP00000441255.3",
"transcript_support_level": 5,
"aa_start": 624,
"aa_end": null,
"aa_length": 650,
"cds_start": 1871,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 2986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545242.6"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1802T>C",
"hgvs_p": "p.Val601Ala",
"transcript": "ENST00000676532.1",
"protein_id": "ENSP00000504601.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 627,
"cds_start": 1802,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1901,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676532.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1754T>C",
"hgvs_p": "p.Val585Ala",
"transcript": "NM_001130084.2",
"protein_id": "NP_001123556.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 611,
"cds_start": 1754,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1878,
"cdna_end": null,
"cdna_length": 3623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130084.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1637T>C",
"hgvs_p": "p.Val546Ala",
"transcript": "NM_001130085.2",
"protein_id": "NP_001123557.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 572,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130085.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1598T>C",
"hgvs_p": "p.Val533Ala",
"transcript": "NM_001130086.2",
"protein_id": "NP_001123558.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 559,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1722,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130086.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1598T>C",
"hgvs_p": "p.Val533Ala",
"transcript": "ENST00000505872.5",
"protein_id": "ENSP00000421283.1",
"transcript_support_level": 5,
"aa_start": 533,
"aa_end": null,
"aa_length": 559,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 1680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505872.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1514T>C",
"hgvs_p": "p.Val505Ala",
"transcript": "NM_001130087.2",
"protein_id": "NP_001123559.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 531,
"cds_start": 1514,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 3383,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130087.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1514T>C",
"hgvs_p": "p.Val505Ala",
"transcript": "ENST00000361737.9",
"protein_id": "ENSP00000354887.5",
"transcript_support_level": 2,
"aa_start": 505,
"aa_end": null,
"aa_length": 531,
"cds_start": 1514,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 3396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361737.9"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1484T>C",
"hgvs_p": "p.Val495Ala",
"transcript": "NM_032432.5",
"protein_id": "NP_115808.3",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 521,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 3353,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032432.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.959T>C",
"hgvs_p": "p.Val320Ala",
"transcript": "NM_001286688.2",
"protein_id": "NP_001273617.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 346,
"cds_start": 959,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 2978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286688.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.959T>C",
"hgvs_p": "p.Val320Ala",
"transcript": "ENST00000514025.5",
"protein_id": "ENSP00000423661.1",
"transcript_support_level": 2,
"aa_start": 320,
"aa_end": null,
"aa_length": 346,
"cds_start": 959,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514025.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.2147T>C",
"hgvs_p": "p.Val716Ala",
"transcript": "XM_047416297.1",
"protein_id": "XP_047272253.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 742,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2236,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416297.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.2144T>C",
"hgvs_p": "p.Val715Ala",
"transcript": "XM_047416298.1",
"protein_id": "XP_047272254.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 741,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2233,
"cdna_end": null,
"cdna_length": 3978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416298.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.2132T>C",
"hgvs_p": "p.Val711Ala",
"transcript": "XM_047416299.1",
"protein_id": "XP_047272255.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 737,
"cds_start": 2132,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2256,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416299.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.2114T>C",
"hgvs_p": "p.Val705Ala",
"transcript": "XM_047416300.1",
"protein_id": "XP_047272256.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 731,
"cds_start": 2114,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2203,
"cdna_end": null,
"cdna_length": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416300.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.2099T>C",
"hgvs_p": "p.Val700Ala",
"transcript": "XM_047416301.1",
"protein_id": "XP_047272257.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 726,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2181,
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}