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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-19536458-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=19536458&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 19536458,
"ref": "T",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001410756.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1957A>T",
"hgvs_p": "p.Met653Leu",
"transcript": "NM_031892.3",
"protein_id": "NP_114098.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 665,
"cds_start": 1957,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397821.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031892.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1957A>T",
"hgvs_p": "p.Met653Leu",
"transcript": "ENST00000397821.8",
"protein_id": "ENSP00000380921.3",
"transcript_support_level": 1,
"aa_start": 653,
"aa_end": null,
"aa_length": 665,
"cds_start": 1957,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031892.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397821.8"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1846A>T",
"hgvs_p": "p.Met616Leu",
"transcript": "ENST00000379698.8",
"protein_id": "ENSP00000369020.4",
"transcript_support_level": 1,
"aa_start": 616,
"aa_end": null,
"aa_length": 628,
"cds_start": 1846,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379698.8"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.2089A>T",
"hgvs_p": "p.Met697Leu",
"transcript": "NM_001410756.1",
"protein_id": "NP_001397685.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 709,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410756.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.2089A>T",
"hgvs_p": "p.Met697Leu",
"transcript": "ENST00000379726.8",
"protein_id": "ENSP00000369049.4",
"transcript_support_level": 5,
"aa_start": 697,
"aa_end": null,
"aa_length": 709,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379726.8"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.2032A>T",
"hgvs_p": "p.Met678Leu",
"transcript": "NM_001353891.2",
"protein_id": "NP_001340820.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 690,
"cds_start": 2032,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353891.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.2032A>T",
"hgvs_p": "p.Met678Leu",
"transcript": "ENST00000699668.1",
"protein_id": "ENSP00000514511.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 690,
"cds_start": 2032,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699668.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.2014A>T",
"hgvs_p": "p.Met672Leu",
"transcript": "ENST00000878923.1",
"protein_id": "ENSP00000548982.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 684,
"cds_start": 2014,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878923.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1960A>T",
"hgvs_p": "p.Met654Leu",
"transcript": "NM_001410757.1",
"protein_id": "NP_001397686.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 666,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410757.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1960A>T",
"hgvs_p": "p.Met654Leu",
"transcript": "ENST00000699670.1",
"protein_id": "ENSP00000514513.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 666,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699670.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1968A>T",
"hgvs_p": "p.Lys656Asn",
"transcript": "ENST00000699679.1",
"protein_id": "ENSP00000514522.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 658,
"cds_start": 1968,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699679.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1912A>T",
"hgvs_p": "p.Met638Leu",
"transcript": "ENST00000699725.1",
"protein_id": "ENSP00000514547.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 650,
"cds_start": 1912,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699725.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1903A>T",
"hgvs_p": "p.Met635Leu",
"transcript": "NM_001353892.2",
"protein_id": "NP_001340821.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 647,
"cds_start": 1903,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353892.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1903A>T",
"hgvs_p": "p.Met635Leu",
"transcript": "ENST00000699671.1",
"protein_id": "ENSP00000514514.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 647,
"cds_start": 1903,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699671.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1885A>T",
"hgvs_p": "p.Met629Leu",
"transcript": "ENST00000970302.1",
"protein_id": "ENSP00000640361.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 641,
"cds_start": 1885,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970302.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1855A>T",
"hgvs_p": "p.Met619Leu",
"transcript": "NM_001353893.2",
"protein_id": "NP_001340822.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 631,
"cds_start": 1855,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353893.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1855A>T",
"hgvs_p": "p.Met619Leu",
"transcript": "ENST00000699726.1",
"protein_id": "ENSP00000514711.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 631,
"cds_start": 1855,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699726.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1846A>T",
"hgvs_p": "p.Met616Leu",
"transcript": "NM_001024666.3",
"protein_id": "NP_001019837.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 628,
"cds_start": 1846,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024666.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1846A>T",
"hgvs_p": "p.Met616Leu",
"transcript": "ENST00000699723.1",
"protein_id": "ENSP00000514545.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 628,
"cds_start": 1846,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699723.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1828A>T",
"hgvs_p": "p.Met610Leu",
"transcript": "NM_001353890.2",
"protein_id": "NP_001340819.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 622,
"cds_start": 1828,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353890.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1828A>T",
"hgvs_p": "p.Met610Leu",
"transcript": "ENST00000699673.1",
"protein_id": "ENSP00000514516.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 622,
"cds_start": 1828,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699673.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
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{
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],
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"computational_score_selected": 0.19445976614952087,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001410756.1",
"gene_symbol": "SH3KBP1",
"hgnc_id": 13867,
"effects": [
"missense_variant",
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],
"inheritance_mode": "XL,Unknown",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}