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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: 2-96861401-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=96861401&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 96861401,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_017789.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.1727C>G",
"hgvs_p": "p.Pro576Arg",
"transcript": "NM_017789.5",
"protein_id": "NP_060259.4",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 833,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000305476.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017789.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.1727C>G",
"hgvs_p": "p.Pro576Arg",
"transcript": "ENST00000305476.10",
"protein_id": "ENSP00000306844.5",
"transcript_support_level": 1,
"aa_start": 576,
"aa_end": null,
"aa_length": 833,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017789.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000305476.10"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.1748C>G",
"hgvs_p": "p.Pro583Arg",
"transcript": "ENST00000897292.1",
"protein_id": "ENSP00000567351.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 840,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897292.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.1730C>G",
"hgvs_p": "p.Pro577Arg",
"transcript": "ENST00000897277.1",
"protein_id": "ENSP00000567336.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 834,
"cds_start": 1730,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897277.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.1730C>G",
"hgvs_p": "p.Pro577Arg",
"transcript": "ENST00000914319.1",
"protein_id": "ENSP00000584378.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 834,
"cds_start": 1730,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914319.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.1727C>G",
"hgvs_p": "p.Pro576Arg",
"transcript": "ENST00000897274.1",
"protein_id": "ENSP00000567333.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 833,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897274.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.1727C>G",
"hgvs_p": "p.Pro576Arg",
"transcript": "ENST00000897280.1",
"protein_id": "ENSP00000567339.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 833,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897280.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.1727C>G",
"hgvs_p": "p.Pro576Arg",
"transcript": "ENST00000897281.1",
"protein_id": "ENSP00000567340.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 833,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897281.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.1727C>G",
"hgvs_p": "p.Pro576Arg",
"transcript": "ENST00000897283.1",
"protein_id": "ENSP00000567342.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 833,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897283.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.1727C>G",
"hgvs_p": "p.Pro576Arg",
"transcript": "ENST00000897284.1",
"protein_id": "ENSP00000567343.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 833,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897284.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.1727C>G",
"hgvs_p": "p.Pro576Arg",
"transcript": "ENST00000897287.1",
"protein_id": "ENSP00000567346.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 833,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897287.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.1727C>G",
"hgvs_p": "p.Pro576Arg",
"transcript": "ENST00000897289.1",
"protein_id": "ENSP00000567348.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 833,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897289.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.1727C>G",
"hgvs_p": "p.Pro576Arg",
"transcript": "ENST00000897291.1",
"protein_id": "ENSP00000567350.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 833,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897291.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.1727C>G",
"hgvs_p": "p.Pro576Arg",
"transcript": "ENST00000897294.1",
"protein_id": "ENSP00000567353.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 833,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897294.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.1727C>G",
"hgvs_p": "p.Pro576Arg",
"transcript": "ENST00000897295.1",
"protein_id": "ENSP00000567354.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 833,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897295.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.1727C>G",
"hgvs_p": "p.Pro576Arg",
"transcript": "ENST00000897296.1",
"protein_id": "ENSP00000567355.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 833,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897296.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.1727C>G",
"hgvs_p": "p.Pro576Arg",
"transcript": "ENST00000897297.1",
"protein_id": "ENSP00000567356.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 833,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897297.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.1727C>G",
"hgvs_p": "p.Pro576Arg",
"transcript": "ENST00000914305.1",
"protein_id": "ENSP00000584364.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 833,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914305.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.1727C>G",
"hgvs_p": "p.Pro576Arg",
"transcript": "ENST00000914316.1",
"protein_id": "ENSP00000584375.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 833,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914316.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.1727C>G",
"hgvs_p": "p.Pro576Arg",
"transcript": "ENST00000914318.1",
"protein_id": "ENSP00000584377.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 833,
"cds_start": 1727,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914318.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.1724C>G",
"hgvs_p": "p.Pro575Arg",
"transcript": "ENST00000897285.1",
"protein_id": "ENSP00000567344.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 832,
"cds_start": 1724,
"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": "ENST00000897285.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.1724C>G",
"hgvs_p": "p.Pro575Arg",
"transcript": "ENST00000914306.1",
"protein_id": "ENSP00000584365.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 832,
"cds_start": 1724,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
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],
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"gnomad_mito_heteroplasmic": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
"alphamissense_score": 0.3411,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.444,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -5,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_017789.5",
"gene_symbol": "SEMA4C",
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"effects": [
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],
"inheritance_mode": "AD",
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],
"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
}