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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: 5-177524520-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=177524520&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 177524520,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001410826.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1961G>A",
"hgvs_p": "p.Arg654Gln",
"transcript": "NM_001190946.3",
"protein_id": "NP_001177875.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 822,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000514747.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190946.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1961G>A",
"hgvs_p": "p.Arg654Gln",
"transcript": "ENST00000514747.6",
"protein_id": "ENSP00000422131.1",
"transcript_support_level": 5,
"aa_start": 654,
"aa_end": null,
"aa_length": 822,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001190946.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514747.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "n.968G>A",
"hgvs_p": null,
"transcript": "ENST00000505569.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000505569.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "n.*3191G>A",
"hgvs_p": null,
"transcript": "ENST00000506955.5",
"protein_id": "ENSP00000424961.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000506955.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "n.*1012G>A",
"hgvs_p": null,
"transcript": "ENST00000510163.5",
"protein_id": "ENSP00000425310.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000510163.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "n.*3191G>A",
"hgvs_p": null,
"transcript": "ENST00000506955.5",
"protein_id": "ENSP00000424961.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000506955.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "n.*1012G>A",
"hgvs_p": null,
"transcript": "ENST00000510163.5",
"protein_id": "ENSP00000425310.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000510163.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.2201G>A",
"hgvs_p": "p.Arg734Gln",
"transcript": "NM_001410826.1",
"protein_id": "NP_001397755.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 902,
"cds_start": 2201,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410826.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.2201G>A",
"hgvs_p": "p.Arg734Gln",
"transcript": "ENST00000524677.6",
"protein_id": "ENSP00000432463.2",
"transcript_support_level": 2,
"aa_start": 734,
"aa_end": null,
"aa_length": 902,
"cds_start": 2201,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524677.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.2096G>A",
"hgvs_p": "p.Arg699Gln",
"transcript": "ENST00000926804.1",
"protein_id": "ENSP00000596863.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 867,
"cds_start": 2096,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926804.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1862G>A",
"hgvs_p": "p.Arg621Gln",
"transcript": "NM_001366500.1",
"protein_id": "NP_001353429.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 789,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366500.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1718G>A",
"hgvs_p": "p.Arg573Gln",
"transcript": "ENST00000926806.1",
"protein_id": "ENSP00000596865.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 741,
"cds_start": 1718,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926806.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379Gln",
"transcript": "ENST00000926807.1",
"protein_id": "ENSP00000596866.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 547,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926807.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.896G>A",
"hgvs_p": "p.Arg299Gln",
"transcript": "ENST00000926805.1",
"protein_id": "ENSP00000596864.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 467,
"cds_start": 896,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926805.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Arg280Gln",
"transcript": "NM_001366498.1",
"protein_id": "NP_001353427.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 448,
"cds_start": 839,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366498.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Arg280Gln",
"transcript": "NM_001366499.1",
"protein_id": "NP_001353428.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 448,
"cds_start": 839,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366499.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.2096G>A",
"hgvs_p": "p.Arg699Gln",
"transcript": "XM_011534572.2",
"protein_id": "XP_011532874.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 867,
"cds_start": 2096,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534572.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.2069G>A",
"hgvs_p": "p.Arg690Gln",
"transcript": "XM_011534573.2",
"protein_id": "XP_011532875.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 858,
"cds_start": 2069,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534573.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1886G>A",
"hgvs_p": "p.Arg629Gln",
"transcript": "XM_011534579.3",
"protein_id": "XP_011532881.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 797,
"cds_start": 1886,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534579.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1862G>A",
"hgvs_p": "p.Arg621Gln",
"transcript": "XM_006714879.4",
"protein_id": "XP_006714942.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 789,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714879.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1862G>A",
"hgvs_p": "p.Arg621Gln",
"transcript": "XM_006714880.3",
"protein_id": "XP_006714943.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 789,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714880.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM193B",
"gene_hgnc_id": 25524,
"hgvs_c": "c.1862G>A",
"hgvs_p": "p.Arg621Gln",
"transcript": "XM_011534580.3",
"protein_id": "XP_011532882.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 789,
"cds_start": 1862,
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
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}
],
"message": null
}