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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: 6-44146858-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=44146858&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 44146858,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018426.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM63B",
"gene_hgnc_id": 17735,
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"transcript": "NM_018426.3",
"protein_id": "NP_060896.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 832,
"cds_start": 794,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000323267.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018426.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM63B",
"gene_hgnc_id": 17735,
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"transcript": "ENST00000323267.11",
"protein_id": "ENSP00000327154.6",
"transcript_support_level": 5,
"aa_start": 265,
"aa_end": null,
"aa_length": 832,
"cds_start": 794,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018426.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323267.11"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM63B",
"gene_hgnc_id": 17735,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Pro193Leu",
"transcript": "ENST00000371893.6",
"protein_id": "ENSP00000360960.2",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 760,
"cds_start": 578,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371893.6"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM63B",
"gene_hgnc_id": 17735,
"hgvs_c": "n.239C>T",
"hgvs_p": null,
"transcript": "ENST00000533121.1",
"protein_id": "ENSP00000432085.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000533121.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM63B",
"gene_hgnc_id": 17735,
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"transcript": "NM_001318792.1",
"protein_id": "NP_001305721.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 832,
"cds_start": 794,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318792.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM63B",
"gene_hgnc_id": 17735,
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"transcript": "ENST00000259746.13",
"protein_id": "ENSP00000259746.9",
"transcript_support_level": 2,
"aa_start": 265,
"aa_end": null,
"aa_length": 832,
"cds_start": 794,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259746.13"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM63B",
"gene_hgnc_id": 17735,
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"transcript": "ENST00000872088.1",
"protein_id": "ENSP00000542147.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 832,
"cds_start": 794,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872088.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM63B",
"gene_hgnc_id": 17735,
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"transcript": "ENST00000872089.1",
"protein_id": "ENSP00000542148.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 832,
"cds_start": 794,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872089.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM63B",
"gene_hgnc_id": 17735,
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"transcript": "ENST00000872090.1",
"protein_id": "ENSP00000542149.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 832,
"cds_start": 794,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872090.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM63B",
"gene_hgnc_id": 17735,
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"transcript": "ENST00000872091.1",
"protein_id": "ENSP00000542150.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 832,
"cds_start": 794,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872091.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM63B",
"gene_hgnc_id": 17735,
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"transcript": "ENST00000872092.1",
"protein_id": "ENSP00000542151.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 832,
"cds_start": 794,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872092.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM63B",
"gene_hgnc_id": 17735,
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"transcript": "ENST00000872093.1",
"protein_id": "ENSP00000542152.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 832,
"cds_start": 794,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872093.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM63B",
"gene_hgnc_id": 17735,
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"transcript": "ENST00000872094.1",
"protein_id": "ENSP00000542153.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 832,
"cds_start": 794,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872094.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM63B",
"gene_hgnc_id": 17735,
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"transcript": "ENST00000872095.1",
"protein_id": "ENSP00000542154.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 832,
"cds_start": 794,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872095.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM63B",
"gene_hgnc_id": 17735,
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"transcript": "ENST00000872096.1",
"protein_id": "ENSP00000542155.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 832,
"cds_start": 794,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872096.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM63B",
"gene_hgnc_id": 17735,
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"transcript": "ENST00000872097.1",
"protein_id": "ENSP00000542156.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 832,
"cds_start": 794,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872097.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM63B",
"gene_hgnc_id": 17735,
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"transcript": "ENST00000872098.1",
"protein_id": "ENSP00000542157.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 832,
"cds_start": 794,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872098.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM63B",
"gene_hgnc_id": 17735,
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"transcript": "ENST00000872099.1",
"protein_id": "ENSP00000542158.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 832,
"cds_start": 794,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872099.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM63B",
"gene_hgnc_id": 17735,
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"transcript": "ENST00000872100.1",
"protein_id": "ENSP00000542159.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 832,
"cds_start": 794,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872100.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM63B",
"gene_hgnc_id": 17735,
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"transcript": "ENST00000872101.1",
"protein_id": "ENSP00000542160.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 832,
"cds_start": 794,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872101.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM63B",
"gene_hgnc_id": 17735,
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"transcript": "ENST00000967672.1",
"protein_id": "ENSP00000637731.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 832,
"cds_start": 794,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967672.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM63B",
"gene_hgnc_id": 17735,
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"transcript": "ENST00000967674.1",
"protein_id": "ENSP00000637733.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 832,
"cds_start": 794,
"cds_end": null,
"cds_length": 2499,
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"allele_count_reference_population": 0,
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"gnomad_genomes_ac": null,
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"computational_score_selected": 0.37204229831695557,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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{
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"BP4"
],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}