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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: 17-15231004-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=15231004&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 15231004,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000312280.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Trp",
"transcript": "ENST00000395938.7",
"protein_id": "ENSP00000379269.3",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 217,
"cds_start": 385,
"cds_end": null,
"cds_length": 654,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.396C>T",
"hgvs_p": "p.Tyr132Tyr",
"transcript": "NM_000304.4",
"protein_id": "NP_000295.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 160,
"cds_start": 396,
"cds_end": null,
"cds_length": 483,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": "ENST00000312280.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.396C>T",
"hgvs_p": "p.Tyr132Tyr",
"transcript": "ENST00000312280.9",
"protein_id": "ENSP00000308937.3",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 160,
"cds_start": 396,
"cds_end": null,
"cds_length": 483,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": "NM_000304.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.192C>T",
"hgvs_p": "p.Tyr64Tyr",
"transcript": "ENST00000494511.7",
"protein_id": "ENSP00000462782.2",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 92,
"cds_start": 192,
"cds_end": null,
"cds_length": 279,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 1616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Trp",
"transcript": "ENST00000674947.1",
"protein_id": "ENSP00000501580.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 217,
"cds_start": 385,
"cds_end": null,
"cds_length": 654,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 1662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Tyr166Tyr",
"transcript": "ENST00000676329.1",
"protein_id": "ENSP00000501698.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 194,
"cds_start": 498,
"cds_end": null,
"cds_length": 585,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 1757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.396C>T",
"hgvs_p": "p.Tyr132Tyr",
"transcript": "NM_001281455.2",
"protein_id": "NP_001268384.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 160,
"cds_start": 396,
"cds_end": null,
"cds_length": 483,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.396C>T",
"hgvs_p": "p.Tyr132Tyr",
"transcript": "NM_001281456.2",
"protein_id": "NP_001268385.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 160,
"cds_start": 396,
"cds_end": null,
"cds_length": 483,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.396C>T",
"hgvs_p": "p.Tyr132Tyr",
"transcript": "NM_153321.3",
"protein_id": "NP_696996.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 160,
"cds_start": 396,
"cds_end": null,
"cds_length": 483,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.396C>T",
"hgvs_p": "p.Tyr132Tyr",
"transcript": "NM_153322.3",
"protein_id": "NP_696997.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 160,
"cds_start": 396,
"cds_end": null,
"cds_length": 483,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 1714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.396C>T",
"hgvs_p": "p.Tyr132Tyr",
"transcript": "ENST00000612492.5",
"protein_id": "ENSP00000484631.1",
"transcript_support_level": 3,
"aa_start": 132,
"aa_end": null,
"aa_length": 160,
"cds_start": 396,
"cds_end": null,
"cds_length": 483,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.396C>T",
"hgvs_p": "p.Tyr132Tyr",
"transcript": "ENST00000674651.1",
"protein_id": "ENSP00000501727.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 160,
"cds_start": 396,
"cds_end": null,
"cds_length": 483,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 1755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.396C>T",
"hgvs_p": "p.Tyr132Tyr",
"transcript": "ENST00000674673.1",
"protein_id": "ENSP00000501804.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 160,
"cds_start": 396,
"cds_end": null,
"cds_length": 483,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.396C>T",
"hgvs_p": "p.Tyr132Tyr",
"transcript": "ENST00000674868.1",
"protein_id": "ENSP00000502835.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 160,
"cds_start": 396,
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"cdna_start": 1027,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.396C>T",
"hgvs_p": "p.Tyr132Tyr",
"transcript": "ENST00000675350.1",
"protein_id": "ENSP00000501557.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 160,
"cds_start": 396,
"cds_end": null,
"cds_length": 483,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 1058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.396C>T",
"hgvs_p": "p.Tyr132Tyr",
"transcript": "ENST00000675808.1",
"protein_id": "ENSP00000502310.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
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"cds_start": 396,
"cds_end": null,
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"cdna_start": 829,
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"cdna_length": 2047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.396C>T",
"hgvs_p": "p.Tyr132Tyr",
"transcript": "ENST00000675819.1",
"protein_id": "ENSP00000502018.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 160,
"cds_start": 396,
"cds_end": null,
"cds_length": 483,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.396C>T",
"hgvs_p": "p.Tyr132Tyr",
"transcript": "ENST00000675950.1",
"protein_id": "ENSP00000501546.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 160,
"cds_start": 396,
"cds_end": null,
"cds_length": 483,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.396C>T",
"hgvs_p": "p.Tyr132Tyr",
"transcript": "ENST00000676221.1",
"protein_id": "ENSP00000502601.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 160,
"cds_start": 396,
"cds_end": null,
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"cdna_start": 599,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.255C>T",
"hgvs_p": "p.Tyr85Tyr",
"transcript": "ENST00000676161.1",
"protein_id": "ENSP00000501766.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 113,
"cds_start": 255,
"cds_end": null,
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"cdna_start": 366,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.192C>T",
"hgvs_p": "p.Tyr64Tyr",
"transcript": "ENST00000580584.3",
"protein_id": "ENSP00000464468.3",
"transcript_support_level": 3,
"aa_start": 64,
"aa_end": null,
"aa_length": 92,
"cds_start": 192,
"cds_end": null,
"cds_length": 279,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.192C>T",
"hgvs_p": "p.Tyr64Tyr",
"transcript": "ENST00000674707.1",
"protein_id": "ENSP00000502250.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 92,
"cds_start": 192,
"cds_end": null,
"cds_length": 279,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 1543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.192C>T",
"hgvs_p": "p.Tyr64Tyr",
"transcript": "ENST00000675854.1",
"protein_id": "ENSP00000502324.1",
"transcript_support_level": null,
"aa_start": 64,
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}
],
"gene_symbol": "PMP22",
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"dbsnp": "rs74361095",
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"allele_count_reference_population": 1995,
"gnomad_exomes_af": 0.000647834,
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"gnomad_exomes_ac": 947,
"gnomad_genomes_ac": 1048,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6800000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.755,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000312280.9",
"gene_symbol": "PMP22",
"hgnc_id": 9118,
"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.396C>T",
"hgvs_p": "p.Tyr132Tyr"
}
],
"clinvar_disease": " type I,6 conditions,Charcot-Marie-Tooth disease,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:4",
"phenotype_combined": "not specified|not provided|Charcot-Marie-Tooth disease, type I|6 conditions|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}