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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: 5-71656799-G-GT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=71656799&ref=G&alt=GT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 71656799,
"ref": "G",
"alt": "GT",
"effect": "frameshift_variant,stop_gained",
"transcript": "NM_022132.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1635dupT",
"hgvs_p": "p.Ser546fs",
"transcript": "NM_022132.5",
"protein_id": "NP_071415.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 563,
"cds_start": 1636,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340941.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022132.5"
},
{
"aa_ref": "S",
"aa_alt": "*?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1635dupT",
"hgvs_p": "p.Ser546fs",
"transcript": "ENST00000340941.11",
"protein_id": "ENSP00000343657.6",
"transcript_support_level": 1,
"aa_start": 546,
"aa_end": null,
"aa_length": 563,
"cds_start": 1636,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022132.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340941.11"
},
{
"aa_ref": "S",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1764dupT",
"hgvs_p": "p.Ser589fs",
"transcript": "ENST00000682876.1",
"protein_id": "ENSP00000508389.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 606,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682876.1"
},
{
"aa_ref": "S",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1662dupT",
"hgvs_p": "p.Ser555fs",
"transcript": "ENST00000888940.1",
"protein_id": "ENSP00000558999.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 572,
"cds_start": 1663,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888940.1"
},
{
"aa_ref": "S",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1656dupT",
"hgvs_p": "p.Ser553fs",
"transcript": "ENST00000888943.1",
"protein_id": "ENSP00000559002.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 570,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888943.1"
},
{
"aa_ref": "S",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1626dupT",
"hgvs_p": "p.Ser543fs",
"transcript": "ENST00000682727.1",
"protein_id": "ENSP00000507393.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 560,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682727.1"
},
{
"aa_ref": "S",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1608dupT",
"hgvs_p": "p.Ser537fs",
"transcript": "ENST00000935385.1",
"protein_id": "ENSP00000605444.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 554,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935385.1"
},
{
"aa_ref": "S",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1605dupT",
"hgvs_p": "p.Ser536fs",
"transcript": "ENST00000888941.1",
"protein_id": "ENSP00000559000.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 553,
"cds_start": 1606,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888941.1"
},
{
"aa_ref": "S",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1605dupT",
"hgvs_p": "p.Ser536fs",
"transcript": "ENST00000954856.1",
"protein_id": "ENSP00000624915.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 553,
"cds_start": 1606,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954856.1"
},
{
"aa_ref": "S",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1545dupT",
"hgvs_p": "p.Ser516fs",
"transcript": "ENST00000683403.1",
"protein_id": "ENSP00000507896.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 533,
"cds_start": 1546,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683403.1"
},
{
"aa_ref": "S",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1521dupT",
"hgvs_p": "p.Ser508fs",
"transcript": "NM_001363147.1",
"protein_id": "NP_001350076.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 525,
"cds_start": 1522,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363147.1"
},
{
"aa_ref": "S",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1521dupT",
"hgvs_p": "p.Ser508fs",
"transcript": "ENST00000683789.1",
"protein_id": "ENSP00000507012.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 525,
"cds_start": 1522,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683789.1"
},
{
"aa_ref": "S",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1512dupT",
"hgvs_p": "p.Ser505fs",
"transcript": "ENST00000888942.1",
"protein_id": "ENSP00000559001.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 522,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888942.1"
},
{
"aa_ref": "S",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1491dupT",
"hgvs_p": "p.Ser498fs",
"transcript": "ENST00000682045.1",
"protein_id": "ENSP00000507329.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 515,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682045.1"
},
{
"aa_ref": "S",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1419dupT",
"hgvs_p": "p.Ser474fs",
"transcript": "ENST00000683339.1",
"protein_id": "ENSP00000507758.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 491,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683339.1"
},
{
"aa_ref": "S",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1242dupT",
"hgvs_p": "p.Ser415fs",
"transcript": "ENST00000682214.1",
"protein_id": "ENSP00000507336.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 432,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682214.1"
},
{
"aa_ref": "S",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1242dupT",
"hgvs_p": "p.Ser415fs",
"transcript": "ENST00000683429.1",
"protein_id": "ENSP00000507697.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 432,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683429.1"
},
{
"aa_ref": "S",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1128dupT",
"hgvs_p": "p.Ser377fs",
"transcript": "ENST00000681968.1",
"protein_id": "ENSP00000508143.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 394,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681968.1"
},
{
"aa_ref": "S",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.801dupT",
"hgvs_p": "p.Ser268fs",
"transcript": "ENST00000684310.1",
"protein_id": "ENSP00000507550.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 285,
"cds_start": 802,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684310.1"
},
{
"aa_ref": "S",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.753dupT",
"hgvs_p": "p.Ser252fs",
"transcript": "ENST00000684530.1",
"protein_id": "ENSP00000507439.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 269,
"cds_start": 754,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684530.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "n.3243dupT",
"hgvs_p": null,
"transcript": "ENST00000505435.4",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000505435.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "n.3466dupT",
"hgvs_p": null,
"transcript": "ENST00000505787.8",
"protein_id": null,
"transcript_support_level": 5,
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{
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{
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{
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{
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"gene_symbol": "MCCC2",
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"transcript": "ENST00000684254.1",
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],
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"dbsnp": "rs768272570",
"frequency_reference_population": 0.000009912952,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000102609,
"gnomad_genomes_af": 0.00000657082,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.038,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_022132.5",
"gene_symbol": "MCCC2",
"hgnc_id": 6937,
"effects": [
"frameshift_variant",
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1635dupT",
"hgvs_p": "p.Ser546fs"
}
],
"clinvar_disease": "3-methylcrotonyl-CoA carboxylase 2 deficiency,Methylcrotonyl-CoA carboxylase deficiency,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:2 US:1",
"phenotype_combined": "3-methylcrotonyl-CoA carboxylase 2 deficiency|Methylcrotonyl-CoA carboxylase deficiency|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}