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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: X-46463247-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=46463247&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 46463247,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001129898.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRABD4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "NM_001129898.2",
"protein_id": "NP_001123370.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 171,
"cds_start": 192,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344302.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001129898.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000344302.9",
"protein_id": "ENSP00000345797.4",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 171,
"cds_start": 192,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001129898.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344302.9"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000487081.1",
"protein_id": "ENSP00000418076.1",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 98,
"cds_start": 192,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487081.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.231A>C",
"hgvs_p": "p.Glu77Asp",
"transcript": "ENST00000942305.1",
"protein_id": "ENSP00000612364.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 179,
"cds_start": 231,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942305.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.231A>C",
"hgvs_p": "p.Glu77Asp",
"transcript": "ENST00000932356.1",
"protein_id": "ENSP00000602415.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 178,
"cds_start": 231,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932356.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000901197.1",
"protein_id": "ENSP00000571256.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 171,
"cds_start": 192,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901197.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000901199.1",
"protein_id": "ENSP00000571258.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 171,
"cds_start": 192,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901199.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000901202.1",
"protein_id": "ENSP00000571261.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 171,
"cds_start": 192,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901202.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000901205.1",
"protein_id": "ENSP00000571264.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 171,
"cds_start": 192,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901205.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000932357.1",
"protein_id": "ENSP00000602416.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 171,
"cds_start": 192,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932357.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000901198.1",
"protein_id": "ENSP00000571257.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 170,
"cds_start": 192,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901198.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000942306.1",
"protein_id": "ENSP00000612365.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 170,
"cds_start": 192,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942306.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRABD4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "NM_017776.3",
"protein_id": "NP_060246.2",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 166,
"cds_start": 192,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017776.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000298190.10",
"protein_id": "ENSP00000298190.6",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 166,
"cds_start": 192,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298190.10"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000901194.1",
"protein_id": "ENSP00000571253.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 166,
"cds_start": 192,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901194.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000901196.1",
"protein_id": "ENSP00000571255.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 166,
"cds_start": 192,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901196.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000901200.1",
"protein_id": "ENSP00000571259.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 166,
"cds_start": 192,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901200.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000901201.1",
"protein_id": "ENSP00000571260.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 166,
"cds_start": 192,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901201.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000901204.1",
"protein_id": "ENSP00000571263.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 166,
"cds_start": 192,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901204.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000932355.1",
"protein_id": "ENSP00000602414.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 166,
"cds_start": 192,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932355.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000942304.1",
"protein_id": "ENSP00000612363.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 166,
"cds_start": 192,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942304.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000942307.1",
"protein_id": "ENSP00000612366.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 166,
"cds_start": 192,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942307.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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{
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{
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{
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{
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],
"gene_symbol": "KRABD4",
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19474422931671143,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.069,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001129898.2",
"gene_symbol": "KRABD4",
"hgnc_id": 26007,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.192A>C",
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},
{
"score": -6,
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"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000487081.1",
"gene_symbol": "KRBOX4",
"hgnc_id": 26007,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Glu64Asp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}