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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: 2-26280083-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=26280083&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 26280083,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000183.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.901G>C",
"hgvs_p": "p.Gly301Arg",
"transcript": "NM_000183.3",
"protein_id": "NP_000174.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 474,
"cds_start": 901,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": "ENST00000317799.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000183.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.901G>C",
"hgvs_p": "p.Gly301Arg",
"transcript": "ENST00000317799.10",
"protein_id": "ENSP00000325136.5",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 474,
"cds_start": 901,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": "NM_000183.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317799.10"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.985G>C",
"hgvs_p": "p.Gly329Arg",
"transcript": "ENST00000942431.1",
"protein_id": "ENSP00000612490.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 502,
"cds_start": 985,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942431.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.931G>C",
"hgvs_p": "p.Gly311Arg",
"transcript": "ENST00000942426.1",
"protein_id": "ENSP00000612485.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 484,
"cds_start": 931,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942426.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Gly310Arg",
"transcript": "ENST00000859601.1",
"protein_id": "ENSP00000529660.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 483,
"cds_start": 928,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859601.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.913G>C",
"hgvs_p": "p.Gly305Arg",
"transcript": "ENST00000942427.1",
"protein_id": "ENSP00000612486.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 478,
"cds_start": 913,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 2034,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942427.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.901G>C",
"hgvs_p": "p.Gly301Arg",
"transcript": "ENST00000859582.1",
"protein_id": "ENSP00000529641.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 474,
"cds_start": 901,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859582.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.901G>C",
"hgvs_p": "p.Gly301Arg",
"transcript": "ENST00000859593.1",
"protein_id": "ENSP00000529652.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 474,
"cds_start": 901,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859593.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.901G>C",
"hgvs_p": "p.Gly301Arg",
"transcript": "ENST00000859599.1",
"protein_id": "ENSP00000529658.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 474,
"cds_start": 901,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 1651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859599.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.901G>C",
"hgvs_p": "p.Gly301Arg",
"transcript": "ENST00000942424.1",
"protein_id": "ENSP00000612483.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 474,
"cds_start": 901,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 2244,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942424.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.901G>C",
"hgvs_p": "p.Gly301Arg",
"transcript": "ENST00000942425.1",
"protein_id": "ENSP00000612484.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 474,
"cds_start": 901,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 2324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942425.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.901G>C",
"hgvs_p": "p.Gly301Arg",
"transcript": "ENST00000942434.1",
"protein_id": "ENSP00000612493.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 474,
"cds_start": 901,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 2023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942434.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.901G>C",
"hgvs_p": "p.Gly301Arg",
"transcript": "ENST00000942437.1",
"protein_id": "ENSP00000612496.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 474,
"cds_start": 901,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 2040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942437.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.901G>C",
"hgvs_p": "p.Gly301Arg",
"transcript": "ENST00000942440.1",
"protein_id": "ENSP00000612499.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 474,
"cds_start": 901,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 2059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942440.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.901G>C",
"hgvs_p": "p.Gly301Arg",
"transcript": "ENST00000942441.1",
"protein_id": "ENSP00000612500.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 474,
"cds_start": 901,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 2039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942441.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.901G>C",
"hgvs_p": "p.Gly301Arg",
"transcript": "ENST00000942445.1",
"protein_id": "ENSP00000612504.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 474,
"cds_start": 901,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1022,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942445.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"transcript": "ENST00000859584.1",
"protein_id": "ENSP00000529643.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 472,
"cds_start": 895,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859584.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.901G>C",
"hgvs_p": "p.Gly301Arg",
"transcript": "ENST00000859587.1",
"protein_id": "ENSP00000529646.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 472,
"cds_start": 901,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859587.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.889G>C",
"hgvs_p": "p.Gly297Arg",
"transcript": "ENST00000942429.1",
"protein_id": "ENSP00000612488.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 470,
"cds_start": 889,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942429.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.883G>C",
"hgvs_p": "p.Gly295Arg",
"transcript": "ENST00000859600.1",
"protein_id": "ENSP00000529659.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 468,
"cds_start": 883,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 1606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859600.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.880G>C",
"hgvs_p": "p.Gly294Arg",
"transcript": "ENST00000942435.1",
"protein_id": "ENSP00000612494.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 467,
"cds_start": 880,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942435.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.856G>C",
"hgvs_p": "p.Gly286Arg",
"transcript": "NM_001281512.2",
"protein_id": "NP_001268441.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 459,
"cds_start": 856,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 916,
"cdna_end": null,
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],
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"computational_score_selected": 0.9915070533752441,
"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"acmg_by_gene": [
{
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"criteria": [
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"PP2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "Mitochondrial trifunctional protein deficiency",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Mitochondrial trifunctional protein deficiency",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}