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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: 15-75411696-T-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=75411696&ref=T&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 75411696,
"ref": "T",
"alt": "TG",
"effect": "frameshift_variant",
"transcript": "ENST00000394947.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.803dupC",
"hgvs_p": "p.Leu269fs",
"transcript": "NM_001145358.2",
"protein_id": "NP_001138830.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1273,
"cds_start": 803,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 6723,
"mane_select": "ENST00000394947.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.803dupC",
"hgvs_p": "p.Leu269fs",
"transcript": "ENST00000394947.8",
"protein_id": "ENSP00000378402.3",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 1273,
"cds_start": 803,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 6723,
"mane_select": "NM_001145358.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.803dupC",
"hgvs_p": "p.Leu269fs",
"transcript": "ENST00000360439.8",
"protein_id": "ENSP00000353622.4",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 1273,
"cds_start": 803,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 5050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.803dupC",
"hgvs_p": "p.Leu269fs",
"transcript": "ENST00000394949.8",
"protein_id": "ENSP00000378403.4",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 1273,
"cds_start": 803,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 4930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.803dupC",
"hgvs_p": "p.Leu269fs",
"transcript": "ENST00000704310.1",
"protein_id": "ENSP00000515832.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1278,
"cds_start": 803,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 5342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.803dupC",
"hgvs_p": "p.Leu269fs",
"transcript": "NM_001145357.2",
"protein_id": "NP_001138829.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1273,
"cds_start": 803,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 6636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.803dupC",
"hgvs_p": "p.Leu269fs",
"transcript": "NM_001437462.1",
"protein_id": "NP_001424391.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1273,
"cds_start": 803,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 6821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.803dupC",
"hgvs_p": "p.Leu269fs",
"transcript": "NM_001437463.1",
"protein_id": "NP_001424392.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1273,
"cds_start": 803,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 6483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.803dupC",
"hgvs_p": "p.Leu269fs",
"transcript": "NM_015477.3",
"protein_id": "NP_056292.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1273,
"cds_start": 803,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 6786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.803dupC",
"hgvs_p": "p.Leu269fs",
"transcript": "ENST00000564778.6",
"protein_id": "ENSP00000455204.2",
"transcript_support_level": 2,
"aa_start": 268,
"aa_end": null,
"aa_length": 1273,
"cds_start": 803,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.803dupC",
"hgvs_p": "p.Leu269fs",
"transcript": "ENST00000565264.2",
"protein_id": "ENSP00000454296.2",
"transcript_support_level": 4,
"aa_start": 268,
"aa_end": null,
"aa_length": 1273,
"cds_start": 803,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 5170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.803dupC",
"hgvs_p": "p.Leu269fs",
"transcript": "ENST00000704312.1",
"protein_id": "ENSP00000515834.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1273,
"cds_start": 803,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 4923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.803dupC",
"hgvs_p": "p.Leu269fs",
"transcript": "XM_047432355.1",
"protein_id": "XP_047288311.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1273,
"cds_start": 803,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 6886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.803dupC",
"hgvs_p": "p.Leu269fs",
"transcript": "XM_047432356.1",
"protein_id": "XP_047288312.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1273,
"cds_start": 803,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 6501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.803dupC",
"hgvs_p": "p.Leu269fs",
"transcript": "XM_047432358.1",
"protein_id": "XP_047288314.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1273,
"cds_start": 803,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 6573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.803dupC",
"hgvs_p": "p.Leu269fs",
"transcript": "XM_047432359.1",
"protein_id": "XP_047288315.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1273,
"cds_start": 803,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 6668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.803dupC",
"hgvs_p": "p.Leu269fs",
"transcript": "XM_047432360.1",
"protein_id": "XP_047288316.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1273,
"cds_start": 803,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 2908,
"cdna_end": null,
"cdna_length": 8527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.803dupC",
"hgvs_p": "p.Leu269fs",
"transcript": "XM_047432361.1",
"protein_id": "XP_047288317.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1273,
"cds_start": 803,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 6984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.803dupC",
"hgvs_p": "p.Leu269fs",
"transcript": "XM_047432362.1",
"protein_id": "XP_047288318.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1273,
"cds_start": 803,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 6864,
"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": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "n.125dupC",
"hgvs_p": null,
"transcript": "ENST00000704302.1",
"protein_id": "ENSP00000515826.1",
"transcript_support_level": null,
"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": 3287,
"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": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "n.*757dupC",
"hgvs_p": null,
"transcript": "ENST00000704304.1",
"protein_id": "ENSP00000515828.1",
"transcript_support_level": null,
"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": 4936,
"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": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "n.*658dupC",
"hgvs_p": null,
"transcript": "ENST00000704305.1",
"protein_id": "ENSP00000515829.1",
"transcript_support_level": null,
"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": 3989,
"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": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "n.*757dupC",
"hgvs_p": null,
"transcript": "ENST00000704304.1",
"protein_id": "ENSP00000515828.1",
"transcript_support_level": null,
"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": 4936,
"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": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "n.*658dupC",
"hgvs_p": null,
"transcript": "ENST00000704305.1",
"protein_id": "ENSP00000515829.1",
"transcript_support_level": null,
"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": 3989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"dbsnp": "rs879255618",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"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": 6.443,
"phylop100way_prediction": "Uncertain_significance",
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000394947.8",
"gene_symbol": "SIN3A",
"hgnc_id": 19353,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.803dupC",
"hgvs_p": "p.Leu269fs"
}
],
"clinvar_disease": "SIN3A-related intellectual disability syndrome due to a point mutation",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "SIN3A-related intellectual disability syndrome due to a point mutation",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}