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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: 11-2403048-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=2403048&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 2403048,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005706.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"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.415A>G",
"hgvs_p": "p.Arg139Gly",
"transcript": "NM_005706.4",
"protein_id": "NP_005697.2",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 329,
"cds_start": 415,
"cds_end": null,
"cds_length": 990,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 1472,
"mane_select": "ENST00000333256.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005706.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.415A>G",
"hgvs_p": "p.Arg139Gly",
"transcript": "ENST00000333256.11",
"protein_id": "ENSP00000331087.6",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 329,
"cds_start": 415,
"cds_end": null,
"cds_length": 990,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 1472,
"mane_select": "NM_005706.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333256.11"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.415A>G",
"hgvs_p": "p.Arg139Gly",
"transcript": "ENST00000451491.2",
"protein_id": "ENSP00000411224.2",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 329,
"cds_start": 415,
"cds_end": null,
"cds_length": 990,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 1423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451491.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.223A>G",
"hgvs_p": "p.Arg75Gly",
"transcript": "ENST00000380996.9",
"protein_id": "ENSP00000370384.5",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 265,
"cds_start": 223,
"cds_end": null,
"cds_length": 798,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 1544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380996.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.415A>G",
"hgvs_p": "p.Arg139Gly",
"transcript": "ENST00000496468.1",
"protein_id": "ENSP00000435013.1",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 190,
"cds_start": 415,
"cds_end": null,
"cds_length": 574,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496468.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.415A>G",
"hgvs_p": "p.Arg139Gly",
"transcript": "NM_001297658.2",
"protein_id": "NP_001284587.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 329,
"cds_start": 415,
"cds_end": null,
"cds_length": 990,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297658.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.415A>G",
"hgvs_p": "p.Arg139Gly",
"transcript": "NM_001297659.2",
"protein_id": "NP_001284588.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 329,
"cds_start": 415,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297659.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.415A>G",
"hgvs_p": "p.Arg139Gly",
"transcript": "NM_001297660.2",
"protein_id": "NP_001284589.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 329,
"cds_start": 415,
"cds_end": null,
"cds_length": 990,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297660.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.415A>G",
"hgvs_p": "p.Arg139Gly",
"transcript": "ENST00000867309.1",
"protein_id": "ENSP00000537368.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 329,
"cds_start": 415,
"cds_end": null,
"cds_length": 990,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 1652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867309.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.415A>G",
"hgvs_p": "p.Arg139Gly",
"transcript": "ENST00000867310.1",
"protein_id": "ENSP00000537369.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 329,
"cds_start": 415,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 2573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867310.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.415A>G",
"hgvs_p": "p.Arg139Gly",
"transcript": "ENST00000867311.1",
"protein_id": "ENSP00000537370.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 329,
"cds_start": 415,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1993,
"cdna_end": null,
"cdna_length": 2821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867311.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.415A>G",
"hgvs_p": "p.Arg139Gly",
"transcript": "ENST00000867312.1",
"protein_id": "ENSP00000537371.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 329,
"cds_start": 415,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867312.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.415A>G",
"hgvs_p": "p.Arg139Gly",
"transcript": "ENST00000867313.1",
"protein_id": "ENSP00000537372.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 329,
"cds_start": 415,
"cds_end": null,
"cds_length": 990,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 1628,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867313.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.415A>G",
"hgvs_p": "p.Arg139Gly",
"transcript": "ENST00000867314.1",
"protein_id": "ENSP00000537373.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 329,
"cds_start": 415,
"cds_end": null,
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"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867314.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.415A>G",
"hgvs_p": "p.Arg139Gly",
"transcript": "ENST00000867315.1",
"protein_id": "ENSP00000537374.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 329,
"cds_start": 415,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1623,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867315.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.415A>G",
"hgvs_p": "p.Arg139Gly",
"transcript": "ENST00000920269.1",
"protein_id": "ENSP00000590328.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 329,
"cds_start": 415,
"cds_end": null,
"cds_length": 990,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 1563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920269.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.415A>G",
"hgvs_p": "p.Arg139Gly",
"transcript": "ENST00000920270.1",
"protein_id": "ENSP00000590329.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 329,
"cds_start": 415,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 1902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920270.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.415A>G",
"hgvs_p": "p.Arg139Gly",
"transcript": "ENST00000920271.1",
"protein_id": "ENSP00000590330.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 329,
"cds_start": 415,
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"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 2384,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920271.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.415A>G",
"hgvs_p": "p.Arg139Gly",
"transcript": "ENST00000954227.1",
"protein_id": "ENSP00000624286.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 329,
"cds_start": 415,
"cds_end": null,
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"cdna_start": 487,
"cdna_end": null,
"cdna_length": 1314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954227.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.415A>G",
"hgvs_p": "p.Arg139Gly",
"transcript": "ENST00000954228.1",
"protein_id": "ENSP00000624287.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 329,
"cds_start": 415,
"cds_end": null,
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"cdna_start": 1395,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954228.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.223A>G",
"hgvs_p": "p.Arg75Gly",
"transcript": "NM_001297661.2",
"protein_id": "NP_001284590.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 265,
"cds_start": 223,
"cds_end": null,
"cds_length": 798,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 1280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297661.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.223A>G",
"hgvs_p": "p.Arg75Gly",
"transcript": "ENST00000440813.1",
"protein_id": "ENSP00000416937.1",
"transcript_support_level": 3,
"aa_start": 75,
"aa_end": null,
"aa_length": 206,
"cds_start": 223,
"cds_end": null,
"cds_length": 623,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 851,
"mane_select": null,
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],
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}