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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: 2-241755984-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=241755984&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 241755984,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_152783.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Ala426Thr",
"transcript": "NM_152783.5",
"protein_id": "NP_689996.4",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 521,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321264.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152783.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Ala426Thr",
"transcript": "ENST00000321264.9",
"protein_id": "ENSP00000315351.4",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 521,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152783.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321264.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "n.*2512G>A",
"hgvs_p": null,
"transcript": "ENST00000436747.5",
"protein_id": "ENSP00000400212.1",
"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": "ENST00000436747.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "n.1166G>A",
"hgvs_p": null,
"transcript": "ENST00000468064.5",
"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": "ENST00000468064.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "n.757G>A",
"hgvs_p": null,
"transcript": "ENST00000470343.5",
"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": "ENST00000470343.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "n.475G>A",
"hgvs_p": null,
"transcript": "ENST00000473126.1",
"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": "ENST00000473126.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "n.1103G>A",
"hgvs_p": null,
"transcript": "ENST00000486953.5",
"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": "pseudogene",
"feature": "ENST00000486953.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "n.*2512G>A",
"hgvs_p": null,
"transcript": "ENST00000436747.5",
"protein_id": "ENSP00000400212.1",
"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": "ENST00000436747.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Ala501Thr",
"transcript": "ENST00000951632.1",
"protein_id": "ENSP00000621691.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 596,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951632.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1462G>A",
"hgvs_p": "p.Ala488Thr",
"transcript": "ENST00000951631.1",
"protein_id": "ENSP00000621690.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 583,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951631.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1354G>A",
"hgvs_p": "p.Ala452Thr",
"transcript": "ENST00000951636.1",
"protein_id": "ENSP00000621695.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 561,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951636.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1357G>A",
"hgvs_p": "p.Ala453Thr",
"transcript": "ENST00000951634.1",
"protein_id": "ENSP00000621693.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 548,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951634.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1354G>A",
"hgvs_p": "p.Ala452Thr",
"transcript": "ENST00000910513.1",
"protein_id": "ENSP00000580572.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 547,
"cds_start": 1354,
"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": "ENST00000910513.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1354G>A",
"hgvs_p": "p.Ala452Thr",
"transcript": "ENST00000910524.1",
"protein_id": "ENSP00000580583.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 547,
"cds_start": 1354,
"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": "ENST00000910524.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1354G>A",
"hgvs_p": "p.Ala452Thr",
"transcript": "ENST00000910522.1",
"protein_id": "ENSP00000580581.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 546,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910522.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Ala426Thr",
"transcript": "ENST00000910517.1",
"protein_id": "ENSP00000580576.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 535,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910517.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1294G>A",
"hgvs_p": "p.Ala432Thr",
"transcript": "ENST00000910519.1",
"protein_id": "ENSP00000580578.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 527,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910519.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Ala426Thr",
"transcript": "ENST00000910514.1",
"protein_id": "ENSP00000580573.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 521,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910514.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Ala426Thr",
"transcript": "ENST00000910520.1",
"protein_id": "ENSP00000580579.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 521,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910520.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Ala426Thr",
"transcript": "ENST00000910515.1",
"protein_id": "ENSP00000580574.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 520,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910515.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Ala425Thr",
"transcript": "ENST00000951635.1",
"protein_id": "ENSP00000621694.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 520,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951635.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1174G>A",
"hgvs_p": "p.Ala392Thr",
"transcript": "ENST00000910516.1",
"protein_id": "ENSP00000580575.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 487,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"hgnc_id": 28358,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Ala426Thr"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000417267.1",
"gene_symbol": "ENSG00000234793",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-244C>T",
"hgvs_p": null
}
],
"clinvar_disease": "D-2-hydroxyglutaric aciduria 1,D2HGDH-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5 B:2",
"phenotype_combined": "not specified|not provided|D-2-hydroxyglutaric aciduria 1|D2HGDH-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}