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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: 17-64003947-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=64003947&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 64003947,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000873.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.346A>T",
"hgvs_p": "p.Ile116Phe",
"transcript": "NM_001099789.2",
"protein_id": "NP_001093259.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 275,
"cds_start": 346,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000579788.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099789.2"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.346A>T",
"hgvs_p": "p.Ile116Phe",
"transcript": "ENST00000579788.6",
"protein_id": "ENSP00000464665.1",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 275,
"cds_start": 346,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001099789.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579788.6"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.346A>T",
"hgvs_p": "p.Ile116Phe",
"transcript": "ENST00000449662.6",
"protein_id": "ENSP00000392634.2",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 275,
"cds_start": 346,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449662.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR29",
"gene_hgnc_id": 25673,
"hgvs_c": "c.*2186T>A",
"hgvs_p": null,
"transcript": "NM_001164257.2",
"protein_id": "NP_001157729.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": null,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000412177.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164257.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR29",
"gene_hgnc_id": 25673,
"hgvs_c": "c.*2186T>A",
"hgvs_p": null,
"transcript": "ENST00000412177.6",
"protein_id": "ENSP00000400986.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": null,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001164257.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412177.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR29",
"gene_hgnc_id": 25673,
"hgvs_c": "n.2721T>A",
"hgvs_p": null,
"transcript": "ENST00000225760.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000225760.5"
},
{
"aa_ref": "I",
"aa_alt": "F",
"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": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.478A>T",
"hgvs_p": "p.Ile160Phe",
"transcript": "ENST00000852957.1",
"protein_id": "ENSP00000523016.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 319,
"cds_start": 478,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852957.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.478A>T",
"hgvs_p": "p.Ile160Phe",
"transcript": "ENST00000965113.1",
"protein_id": "ENSP00000635172.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 319,
"cds_start": 478,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965113.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.478A>T",
"hgvs_p": "p.Ile160Phe",
"transcript": "ENST00000965117.1",
"protein_id": "ENSP00000635176.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 319,
"cds_start": 478,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965117.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.346A>T",
"hgvs_p": "p.Ile116Phe",
"transcript": "NM_000873.4",
"protein_id": "NP_000864.2",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 275,
"cds_start": 346,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000873.4"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.346A>T",
"hgvs_p": "p.Ile116Phe",
"transcript": "NM_001099786.2",
"protein_id": "NP_001093256.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 275,
"cds_start": 346,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099786.2"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.346A>T",
"hgvs_p": "p.Ile116Phe",
"transcript": "NM_001099787.2",
"protein_id": "NP_001093257.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 275,
"cds_start": 346,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099787.2"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.346A>T",
"hgvs_p": "p.Ile116Phe",
"transcript": "NM_001099788.2",
"protein_id": "NP_001093258.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 275,
"cds_start": 346,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099788.2"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.346A>T",
"hgvs_p": "p.Ile116Phe",
"transcript": "ENST00000412356.5",
"protein_id": "ENSP00000415283.1",
"transcript_support_level": 5,
"aa_start": 116,
"aa_end": null,
"aa_length": 275,
"cds_start": 346,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412356.5"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.346A>T",
"hgvs_p": "p.Ile116Phe",
"transcript": "ENST00000418105.5",
"protein_id": "ENSP00000388666.1",
"transcript_support_level": 3,
"aa_start": 116,
"aa_end": null,
"aa_length": 275,
"cds_start": 346,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418105.5"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.346A>T",
"hgvs_p": "p.Ile116Phe",
"transcript": "ENST00000579687.5",
"protein_id": "ENSP00000462579.1",
"transcript_support_level": 3,
"aa_start": 116,
"aa_end": null,
"aa_length": 275,
"cds_start": 346,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579687.5"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.346A>T",
"hgvs_p": "p.Ile116Phe",
"transcript": "ENST00000852958.1",
"protein_id": "ENSP00000523017.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 275,
"cds_start": 346,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852958.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"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": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.346A>T",
"hgvs_p": "p.Ile116Phe",
"transcript": "ENST00000965114.1",
"protein_id": "ENSP00000635173.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 275,
"cds_start": 346,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965114.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.346A>T",
"hgvs_p": "p.Ile116Phe",
"transcript": "ENST00000965115.1",
"protein_id": "ENSP00000635174.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 275,
"cds_start": 346,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965115.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.346A>T",
"hgvs_p": "p.Ile116Phe",
"transcript": "ENST00000965116.1",
"protein_id": "ENSP00000635175.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 275,
"cds_start": 346,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965116.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.274A>T",
"hgvs_p": "p.Ile92Phe",
"transcript": "ENST00000578892.5",
"protein_id": "ENSP00000464372.1",
"transcript_support_level": 3,
"aa_start": 92,
"aa_end": null,
"aa_length": 251,
"cds_start": 274,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578892.5"
},
{
"aa_ref": "I",
"aa_alt": "F",
"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": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.346A>T",
"hgvs_p": "p.Ile116Phe",
"transcript": "ENST00000578313.5",
"protein_id": "ENSP00000464331.1",
"transcript_support_level": 3,
"aa_start": 116,
"aa_end": null,
"aa_length": 215,
"cds_start": 346,
"cds_end": null,
"cds_length": 649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578313.5"
},
{
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{
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}
],
"message": null
}