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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: 16-29963464-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=29963464&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 29963464,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_194280.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "NM_001083613.2",
"protein_id": "NP_001077082.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 240,
"cds_start": 230,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000279396.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083613.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "ENST00000279396.11",
"protein_id": "ENSP00000279396.6",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 240,
"cds_start": 230,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001083613.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000279396.11"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "ENST00000414689.6",
"protein_id": "ENSP00000388485.2",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 240,
"cds_start": 230,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414689.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "ENST00000566848.5",
"protein_id": "ENSP00000457492.1",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 240,
"cds_start": 230,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566848.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "NM_001369688.1",
"protein_id": "NP_001356617.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 240,
"cds_start": 230,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369688.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "NM_194280.4",
"protein_id": "NP_919256.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 240,
"cds_start": 230,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194280.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "ENST00000561899.6",
"protein_id": "ENSP00000456960.1",
"transcript_support_level": 2,
"aa_start": 77,
"aa_end": null,
"aa_length": 240,
"cds_start": 230,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561899.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "ENST00000892936.1",
"protein_id": "ENSP00000562995.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 240,
"cds_start": 230,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892936.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "ENST00000892937.1",
"protein_id": "ENSP00000562996.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 240,
"cds_start": 230,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892937.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "ENST00000892938.1",
"protein_id": "ENSP00000562997.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 240,
"cds_start": 230,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892938.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "ENST00000892939.1",
"protein_id": "ENSP00000562998.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 240,
"cds_start": 230,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892939.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "ENST00000892941.1",
"protein_id": "ENSP00000563000.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 240,
"cds_start": 230,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892941.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "ENST00000892942.1",
"protein_id": "ENSP00000563001.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 240,
"cds_start": 230,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892942.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "ENST00000892943.1",
"protein_id": "ENSP00000563002.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 240,
"cds_start": 230,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892943.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "ENST00000892944.1",
"protein_id": "ENSP00000563003.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 240,
"cds_start": 230,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892944.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "ENST00000892945.1",
"protein_id": "ENSP00000563004.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 240,
"cds_start": 230,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892945.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "ENST00000892946.1",
"protein_id": "ENSP00000563005.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 240,
"cds_start": 230,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892946.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "ENST00000892947.1",
"protein_id": "ENSP00000563006.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 240,
"cds_start": 230,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892947.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "ENST00000933382.1",
"protein_id": "ENSP00000603441.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 240,
"cds_start": 230,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933382.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "ENST00000933383.1",
"protein_id": "ENSP00000603442.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 240,
"cds_start": 230,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933383.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "ENST00000958118.1",
"protein_id": "ENSP00000628177.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 240,
"cds_start": 230,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958118.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "ENST00000958119.1",
"protein_id": "ENSP00000628178.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 240,
"cds_start": 230,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"phenotype_combined": "not specified",
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}
],
"message": null
}