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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: 9-95482143-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=95482143&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 95482143,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000331920.11",
"consequences": [
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.645C>T",
"hgvs_p": "p.Tyr215Tyr",
"transcript": "NM_000264.5",
"protein_id": "NP_000255.2",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 1447,
"cds_start": 645,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 8662,
"mane_select": "ENST00000331920.11",
"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": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.645C>T",
"hgvs_p": "p.Tyr215Tyr",
"transcript": "ENST00000331920.11",
"protein_id": "ENSP00000332353.6",
"transcript_support_level": 5,
"aa_start": 215,
"aa_end": null,
"aa_length": 1447,
"cds_start": 645,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 8662,
"mane_select": "NM_000264.5",
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.642C>T",
"hgvs_p": "p.Tyr214Tyr",
"transcript": "NM_001083603.3",
"protein_id": "NP_001077072.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1446,
"cds_start": 642,
"cds_end": null,
"cds_length": 4341,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 7905,
"mane_select": null,
"mane_plus": "ENST00000437951.6",
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.642C>T",
"hgvs_p": "p.Tyr214Tyr",
"transcript": "ENST00000437951.6",
"protein_id": "ENSP00000389744.2",
"transcript_support_level": 5,
"aa_start": 214,
"aa_end": null,
"aa_length": 1446,
"cds_start": 642,
"cds_end": null,
"cds_length": 4341,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 7905,
"mane_select": null,
"mane_plus": "NM_001083603.3",
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.192C>T",
"hgvs_p": "p.Tyr64Tyr",
"transcript": "ENST00000429896.6",
"protein_id": "ENSP00000414823.2",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 1296,
"cds_start": 192,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 6563,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Tyr149Tyr",
"transcript": "ENST00000468211.6",
"protein_id": "ENSP00000449745.1",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 183,
"cds_start": 447,
"cds_end": null,
"cds_length": 552,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 1254,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.192C>T",
"hgvs_p": "p.Tyr64Tyr",
"transcript": "ENST00000546820.5",
"protein_id": "ENSP00000448843.1",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 173,
"cds_start": 192,
"cds_end": null,
"cds_length": 522,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 864,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.192C>T",
"hgvs_p": "p.Tyr64Tyr",
"transcript": "ENST00000547672.5",
"protein_id": "ENSP00000447878.1",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 173,
"cds_start": 192,
"cds_end": null,
"cds_length": 522,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 881,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.192C>T",
"hgvs_p": "p.Tyr64Tyr",
"transcript": "ENST00000553011.5",
"protein_id": "ENSP00000447797.1",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 173,
"cds_start": 192,
"cds_end": null,
"cds_length": 522,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 1037,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.192C>T",
"hgvs_p": "p.Tyr64Tyr",
"transcript": "ENST00000551630.1",
"protein_id": "ENSP00000450131.1",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 91,
"cds_start": 192,
"cds_end": null,
"cds_length": 276,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 539,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "n.*236C>T",
"hgvs_p": null,
"transcript": "ENST00000551623.1",
"protein_id": "ENSP00000447242.1",
"transcript_support_level": 1,
"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": 366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "n.*236C>T",
"hgvs_p": null,
"transcript": "ENST00000551623.1",
"protein_id": "ENSP00000447242.1",
"transcript_support_level": 1,
"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": 366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "n.194-1555C>T",
"hgvs_p": null,
"transcript": "ENST00000548945.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 243,
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.645C>T",
"hgvs_p": "p.Tyr215Tyr",
"transcript": "NM_001354918.2",
"protein_id": "NP_001341847.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 1395,
"cds_start": 645,
"cds_end": null,
"cds_length": 4188,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 8506,
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Tyr149Tyr",
"transcript": "NM_001083602.3",
"protein_id": "NP_001077071.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1381,
"cds_start": 447,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 8059,
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Tyr149Tyr",
"transcript": "ENST00000430669.6",
"protein_id": "ENSP00000410287.2",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 1381,
"cds_start": 447,
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"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 8232,
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Tyr149Tyr",
"transcript": "ENST00000711046.1",
"protein_id": "ENSP00000518556.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1381,
"cds_start": 447,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 8059,
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.192C>T",
"hgvs_p": "p.Tyr64Tyr",
"transcript": "NM_001083604.3",
"protein_id": "NP_001077073.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1296,
"cds_start": 192,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 7663,
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.192C>T",
"hgvs_p": "p.Tyr64Tyr",
"transcript": "NM_001083605.3",
"protein_id": "NP_001077074.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1296,
"cds_start": 192,
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"cds_length": 3891,
"cdna_start": 534,
"cdna_end": null,
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"mane_select": null,
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"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.192C>T",
"hgvs_p": "p.Tyr64Tyr",
"transcript": "NM_001083606.3",
"protein_id": "NP_001077075.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1296,
"cds_start": 192,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 7755,
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.192C>T",
"hgvs_p": "p.Tyr64Tyr",
"transcript": "NM_001083607.3",
"protein_id": "NP_001077076.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1296,
"cds_start": 192,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 7819,
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.192C>T",
"hgvs_p": "p.Tyr64Tyr",
"transcript": "ENST00000692981.1",
"protein_id": "ENSP00000510238.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1296,
"cds_start": 192,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 7000,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Tyr149Tyr",
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{
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}
],
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}