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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: 9-95480440-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=95480440&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 95480440,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000331920.11",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.895C>A",
"hgvs_p": "p.Pro299Thr",
"transcript": "NM_000264.5",
"protein_id": "NP_000255.2",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 1447,
"cds_start": 895,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 1800,
"cdna_end": null,
"cdna_length": 8662,
"mane_select": "ENST00000331920.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.895C>A",
"hgvs_p": "p.Pro299Thr",
"transcript": "ENST00000331920.11",
"protein_id": "ENSP00000332353.6",
"transcript_support_level": 5,
"aa_start": 299,
"aa_end": null,
"aa_length": 1447,
"cds_start": 895,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 1800,
"cdna_end": null,
"cdna_length": 8662,
"mane_select": "NM_000264.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.892C>A",
"hgvs_p": "p.Pro298Thr",
"transcript": "NM_001083603.3",
"protein_id": "NP_001077072.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1446,
"cds_start": 892,
"cds_end": null,
"cds_length": 4341,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 7905,
"mane_select": null,
"mane_plus": "ENST00000437951.6",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.892C>A",
"hgvs_p": "p.Pro298Thr",
"transcript": "ENST00000437951.6",
"protein_id": "ENSP00000389744.2",
"transcript_support_level": 5,
"aa_start": 298,
"aa_end": null,
"aa_length": 1446,
"cds_start": 892,
"cds_end": null,
"cds_length": 4341,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 7905,
"mane_select": null,
"mane_plus": "NM_001083603.3",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Pro148Thr",
"transcript": "ENST00000429896.6",
"protein_id": "ENSP00000414823.2",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 1296,
"cds_start": 442,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 6563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.46C>A",
"hgvs_p": "p.Pro16Thr",
"transcript": "ENST00000375271.4",
"protein_id": "ENSP00000364420.4",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 351,
"cds_start": 46,
"cds_end": null,
"cds_length": 1058,
"cdna_start": 46,
"cdna_end": null,
"cdna_length": 1058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Pro148Thr",
"transcript": "ENST00000546820.5",
"protein_id": "ENSP00000448843.1",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 173,
"cds_start": 442,
"cds_end": null,
"cds_length": 522,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Pro148Thr",
"transcript": "ENST00000547672.5",
"protein_id": "ENSP00000447878.1",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 173,
"cds_start": 442,
"cds_end": null,
"cds_length": 522,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Pro148Thr",
"transcript": "ENST00000553011.5",
"protein_id": "ENSP00000447797.1",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 173,
"cds_start": 442,
"cds_end": null,
"cds_length": 522,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 1037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.895C>A",
"hgvs_p": "p.Pro299Thr",
"transcript": "NM_001354918.2",
"protein_id": "NP_001341847.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 1395,
"cds_start": 895,
"cds_end": null,
"cds_length": 4188,
"cdna_start": 1800,
"cdna_end": null,
"cdna_length": 8506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.697C>A",
"hgvs_p": "p.Pro233Thr",
"transcript": "NM_001083602.3",
"protein_id": "NP_001077071.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 1381,
"cds_start": 697,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 8059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.697C>A",
"hgvs_p": "p.Pro233Thr",
"transcript": "ENST00000430669.6",
"protein_id": "ENSP00000410287.2",
"transcript_support_level": 5,
"aa_start": 233,
"aa_end": null,
"aa_length": 1381,
"cds_start": 697,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 8232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.697C>A",
"hgvs_p": "p.Pro233Thr",
"transcript": "ENST00000711046.1",
"protein_id": "ENSP00000518556.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 1381,
"cds_start": 697,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 8059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Pro148Thr",
"transcript": "NM_001083604.3",
"protein_id": "NP_001077073.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 1296,
"cds_start": 442,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 7663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Pro148Thr",
"transcript": "NM_001083605.3",
"protein_id": "NP_001077074.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 1296,
"cds_start": 442,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 7646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Pro148Thr",
"transcript": "NM_001083606.3",
"protein_id": "NP_001077075.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 1296,
"cds_start": 442,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 7755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Pro148Thr",
"transcript": "NM_001083607.3",
"protein_id": "NP_001077076.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 1296,
"cds_start": 442,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 7819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Pro148Thr",
"transcript": "ENST00000692981.1",
"protein_id": "ENSP00000510238.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 1296,
"cds_start": 442,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 7000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Pro148Thr",
"transcript": "ENST00000551845.5",
"protein_id": "ENSP00000447008.1",
"transcript_support_level": 5,
"aa_start": 148,
"aa_end": null,
"aa_length": 173,
"cds_start": 442,
"cds_end": null,
"cds_length": 522,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.55C>A",
"hgvs_p": "p.Pro19Thr",
"transcript": "ENST00000548420.1",
"protein_id": "ENSP00000449078.1",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 65,
"cds_start": 55,
"cds_end": null,
"cds_length": 200,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "n.532C>A",
"hgvs_p": null,
"transcript": "ENST00000375290.6",
"protein_id": "ENSP00000364439.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "n.16C>A",
"hgvs_p": null,
"transcript": "ENST00000488809.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "n.548C>A",
"hgvs_p": null,
"transcript": "ENST00000548379.5",
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],
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"phylop100way_prediction": "Pathogenic",
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{
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}