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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: 11-2403114-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=2403114&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 2403114,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005706.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSSC4",
"gene_hgnc_id": 12386,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161Cys",
"transcript": "NM_005706.4",
"protein_id": "NP_005697.2",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 329,
"cds_start": 481,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000333256.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005706.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSSC4",
"gene_hgnc_id": 12386,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161Cys",
"transcript": "ENST00000333256.11",
"protein_id": "ENSP00000331087.6",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 329,
"cds_start": 481,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005706.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333256.11"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSSC4",
"gene_hgnc_id": 12386,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161Cys",
"transcript": "ENST00000451491.2",
"protein_id": "ENSP00000411224.2",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 329,
"cds_start": 481,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451491.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSSC4",
"gene_hgnc_id": 12386,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97Cys",
"transcript": "ENST00000380996.9",
"protein_id": "ENSP00000370384.5",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 265,
"cds_start": 289,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380996.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSSC4",
"gene_hgnc_id": 12386,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161Cys",
"transcript": "ENST00000496468.1",
"protein_id": "ENSP00000435013.1",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 190,
"cds_start": 481,
"cds_end": null,
"cds_length": 574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496468.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSSC4",
"gene_hgnc_id": 12386,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161Cys",
"transcript": "NM_001297658.2",
"protein_id": "NP_001284587.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 329,
"cds_start": 481,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297658.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSSC4",
"gene_hgnc_id": 12386,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161Cys",
"transcript": "NM_001297659.2",
"protein_id": "NP_001284588.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 329,
"cds_start": 481,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297659.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSSC4",
"gene_hgnc_id": 12386,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161Cys",
"transcript": "NM_001297660.2",
"protein_id": "NP_001284589.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 329,
"cds_start": 481,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297660.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSSC4",
"gene_hgnc_id": 12386,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161Cys",
"transcript": "ENST00000867309.1",
"protein_id": "ENSP00000537368.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 329,
"cds_start": 481,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867309.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSSC4",
"gene_hgnc_id": 12386,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161Cys",
"transcript": "ENST00000867310.1",
"protein_id": "ENSP00000537369.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 329,
"cds_start": 481,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867310.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSSC4",
"gene_hgnc_id": 12386,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161Cys",
"transcript": "ENST00000867311.1",
"protein_id": "ENSP00000537370.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 329,
"cds_start": 481,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867311.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSSC4",
"gene_hgnc_id": 12386,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161Cys",
"transcript": "ENST00000867312.1",
"protein_id": "ENSP00000537371.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 329,
"cds_start": 481,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867312.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSSC4",
"gene_hgnc_id": 12386,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161Cys",
"transcript": "ENST00000867313.1",
"protein_id": "ENSP00000537372.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 329,
"cds_start": 481,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867313.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSSC4",
"gene_hgnc_id": 12386,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161Cys",
"transcript": "ENST00000867314.1",
"protein_id": "ENSP00000537373.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 329,
"cds_start": 481,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867314.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSSC4",
"gene_hgnc_id": 12386,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161Cys",
"transcript": "ENST00000867315.1",
"protein_id": "ENSP00000537374.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 329,
"cds_start": 481,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867315.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSSC4",
"gene_hgnc_id": 12386,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161Cys",
"transcript": "ENST00000920269.1",
"protein_id": "ENSP00000590328.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 329,
"cds_start": 481,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920269.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSSC4",
"gene_hgnc_id": 12386,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161Cys",
"transcript": "ENST00000920270.1",
"protein_id": "ENSP00000590329.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 329,
"cds_start": 481,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920270.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSSC4",
"gene_hgnc_id": 12386,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161Cys",
"transcript": "ENST00000920271.1",
"protein_id": "ENSP00000590330.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 329,
"cds_start": 481,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920271.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSSC4",
"gene_hgnc_id": 12386,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161Cys",
"transcript": "ENST00000954227.1",
"protein_id": "ENSP00000624286.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 329,
"cds_start": 481,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954227.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSSC4",
"gene_hgnc_id": 12386,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161Cys",
"transcript": "ENST00000954228.1",
"protein_id": "ENSP00000624287.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 329,
"cds_start": 481,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954228.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSSC4",
"gene_hgnc_id": 12386,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97Cys",
"transcript": "NM_001297661.2",
"protein_id": "NP_001284590.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 265,
"cds_start": 289,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297661.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSSC4",
"gene_hgnc_id": 12386,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97Cys",
"transcript": "ENST00000440813.1",
"protein_id": "ENSP00000416937.1",
"transcript_support_level": 3,
"aa_start": 97,
"aa_end": null,
"aa_length": 206,
"cds_start": 289,
"cds_end": null,
"cds_length": 623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440813.1"
},
{
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{
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{
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],
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{
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{
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"feature": "ENST00000485682.6"
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],
"gene_symbol": "TSSC4",
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"dbsnp": "rs200813886",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 82,
"gnomad_exomes_af": 0.0000513618,
"gnomad_genomes_af": 0.000045948,
"gnomad_exomes_ac": 75,
"gnomad_genomes_ac": 7,
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"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.796314537525177,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.627,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4995,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.905,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005706.4",
"gene_symbol": "TSSC4",
"hgnc_id": 12386,
"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Arg161Cys"
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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
}