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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: 5-151117174-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=151117174&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 151117174,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001155.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA6",
"gene_hgnc_id": 544,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Arg509Cys",
"transcript": "NM_001155.5",
"protein_id": "NP_001146.2",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 673,
"cds_start": 1525,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354546.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001155.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA6",
"gene_hgnc_id": 544,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Arg509Cys",
"transcript": "ENST00000354546.10",
"protein_id": "ENSP00000346550.5",
"transcript_support_level": 1,
"aa_start": 509,
"aa_end": null,
"aa_length": 673,
"cds_start": 1525,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001155.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354546.10"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA6",
"gene_hgnc_id": 544,
"hgvs_c": "c.1621C>T",
"hgvs_p": "p.Arg541Cys",
"transcript": "ENST00000941434.1",
"protein_id": "ENSP00000611493.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 705,
"cds_start": 1621,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941434.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA6",
"gene_hgnc_id": 544,
"hgvs_c": "c.1603C>T",
"hgvs_p": "p.Arg535Cys",
"transcript": "ENST00000935749.1",
"protein_id": "ENSP00000605808.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 699,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935749.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA6",
"gene_hgnc_id": 544,
"hgvs_c": "c.1603C>T",
"hgvs_p": "p.Arg535Cys",
"transcript": "ENST00000941435.1",
"protein_id": "ENSP00000611494.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 699,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941435.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA6",
"gene_hgnc_id": 544,
"hgvs_c": "c.1603C>T",
"hgvs_p": "p.Arg535Cys",
"transcript": "ENST00000941440.1",
"protein_id": "ENSP00000611499.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 699,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941440.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA6",
"gene_hgnc_id": 544,
"hgvs_c": "c.1603C>T",
"hgvs_p": "p.Arg535Cys",
"transcript": "ENST00000941436.1",
"protein_id": "ENSP00000611495.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 693,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941436.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA6",
"gene_hgnc_id": 544,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Arg509Cys",
"transcript": "ENST00000941438.1",
"protein_id": "ENSP00000611497.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 690,
"cds_start": 1525,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941438.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA6",
"gene_hgnc_id": 544,
"hgvs_c": "c.1570C>T",
"hgvs_p": "p.Arg524Cys",
"transcript": "ENST00000893683.1",
"protein_id": "ENSP00000563742.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 688,
"cds_start": 1570,
"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": "ENST00000893683.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA6",
"gene_hgnc_id": 544,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Arg509Cys",
"transcript": "ENST00000893677.1",
"protein_id": "ENSP00000563736.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 673,
"cds_start": 1525,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893677.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA6",
"gene_hgnc_id": 544,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Arg509Cys",
"transcript": "ENST00000893679.1",
"protein_id": "ENSP00000563738.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 673,
"cds_start": 1525,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893679.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA6",
"gene_hgnc_id": 544,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Arg509Cys",
"transcript": "ENST00000893680.1",
"protein_id": "ENSP00000563739.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 673,
"cds_start": 1525,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893680.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA6",
"gene_hgnc_id": 544,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Arg509Cys",
"transcript": "ENST00000941437.1",
"protein_id": "ENSP00000611496.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 673,
"cds_start": 1525,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941437.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA6",
"gene_hgnc_id": 544,
"hgvs_c": "c.1513C>T",
"hgvs_p": "p.Arg505Cys",
"transcript": "ENST00000941439.1",
"protein_id": "ENSP00000611498.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 669,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941439.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA6",
"gene_hgnc_id": 544,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Arg509Cys",
"transcript": "NM_001363114.2",
"protein_id": "NP_001350043.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 667,
"cds_start": 1525,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363114.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA6",
"gene_hgnc_id": 544,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Arg509Cys",
"transcript": "ENST00000700367.1",
"protein_id": "ENSP00000514965.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 667,
"cds_start": 1525,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700367.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA6",
"gene_hgnc_id": 544,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Arg509Cys",
"transcript": "ENST00000893689.1",
"protein_id": "ENSP00000563748.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 667,
"cds_start": 1525,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893689.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA6",
"gene_hgnc_id": 544,
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"transcript": "ENST00000893685.1",
"protein_id": "ENSP00000563744.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 663,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893685.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA6",
"gene_hgnc_id": 544,
"hgvs_c": "c.1480C>T",
"hgvs_p": "p.Arg494Cys",
"transcript": "ENST00000893678.1",
"protein_id": "ENSP00000563737.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 658,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893678.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA6",
"gene_hgnc_id": 544,
"hgvs_c": "c.1429C>T",
"hgvs_p": "p.Arg477Cys",
"transcript": "NM_001193544.2",
"protein_id": "NP_001180473.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 641,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193544.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA6",
"gene_hgnc_id": 544,
"hgvs_c": "c.1429C>T",
"hgvs_p": "p.Arg477Cys",
"transcript": "ENST00000523714.5",
"protein_id": "ENSP00000430517.1",
"transcript_support_level": 2,
"aa_start": 477,
"aa_end": null,
"aa_length": 641,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523714.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA6",
"gene_hgnc_id": 544,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Arg509Cys",
"transcript": "ENST00000893681.1",
"protein_id": "ENSP00000563740.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 641,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1926,
"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
}