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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: 7-124842843-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=124842843&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 124842843,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000357628.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1127A>G",
"hgvs_p": "p.Gln376Arg",
"transcript": "NM_015450.3",
"protein_id": "NP_056265.2",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 634,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": "ENST00000357628.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1127A>G",
"hgvs_p": "p.Gln376Arg",
"transcript": "ENST00000357628.8",
"protein_id": "ENSP00000350249.3",
"transcript_support_level": 2,
"aa_start": 376,
"aa_end": null,
"aa_length": 634,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": "NM_015450.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.1127A>G",
"hgvs_p": null,
"transcript": "ENST00000607932.5",
"protein_id": "ENSP00000476506.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.*224A>G",
"hgvs_p": null,
"transcript": "ENST00000608057.5",
"protein_id": "ENSP00000476371.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.*224A>G",
"hgvs_p": null,
"transcript": "ENST00000608057.5",
"protein_id": "ENSP00000476371.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1127A>G",
"hgvs_p": "p.Gln376Arg",
"transcript": "ENST00000653241.1",
"protein_id": "ENSP00000499476.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 634,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1781,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1127A>G",
"hgvs_p": "p.Gln376Arg",
"transcript": "ENST00000655761.1",
"protein_id": "ENSP00000499635.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 634,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1127A>G",
"hgvs_p": "p.Gln376Arg",
"transcript": "ENST00000664366.1",
"protein_id": "ENSP00000499290.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 634,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1880,
"cdna_end": null,
"cdna_length": 3091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1127A>G",
"hgvs_p": "p.Gln376Arg",
"transcript": "ENST00000668382.1",
"protein_id": "ENSP00000499546.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 634,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 2877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1127A>G",
"hgvs_p": "p.Gln376Arg",
"transcript": "ENST00000654766.1",
"protein_id": "ENSP00000499395.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 559,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.Gln245Arg",
"transcript": "NM_001042594.2",
"protein_id": "NP_001036059.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 503,
"cds_start": 734,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 3793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.Gln245Arg",
"transcript": "ENST00000393329.5",
"protein_id": "ENSP00000377002.1",
"transcript_support_level": 5,
"aa_start": 245,
"aa_end": null,
"aa_length": 503,
"cds_start": 734,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.1127A>G",
"hgvs_p": null,
"transcript": "ENST00000430927.6",
"protein_id": "ENSP00000397632.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.407A>G",
"hgvs_p": null,
"transcript": "ENST00000466483.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.1127A>G",
"hgvs_p": null,
"transcript": "ENST00000609106.5",
"protein_id": "ENSP00000476981.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.1127A>G",
"hgvs_p": null,
"transcript": "ENST00000653274.1",
"protein_id": "ENSP00000499382.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.*858A>G",
"hgvs_p": null,
"transcript": "ENST00000653819.1",
"protein_id": "ENSP00000499533.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.*769A>G",
"hgvs_p": null,
"transcript": "ENST00000653892.1",
"protein_id": "ENSP00000499506.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.*858A>G",
"hgvs_p": null,
"transcript": "ENST00000657333.1",
"protein_id": "ENSP00000499425.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.*996A>G",
"hgvs_p": null,
"transcript": "ENST00000657892.1",
"protein_id": "ENSP00000499524.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.1127A>G",
"hgvs_p": null,
"transcript": "ENST00000661898.1",
"protein_id": "ENSP00000499528.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.*1022A>G",
"hgvs_p": null,
"transcript": "ENST00000662531.1",
"protein_id": "ENSP00000499488.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.*978A>G",
"hgvs_p": null,
"transcript": "ENST00000664330.1",
"protein_id": "ENSP00000499781.1",
"transcript_support_level": null,
"aa_start": null,
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],
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"computational_score_selected": 0.07021743059158325,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.838,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
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"acmg_score": -3,
"acmg_classification": "Likely_benign",
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{
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"criteria": [
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"verdict": "Likely_benign",
"transcript": "ENST00000357628.8",
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"effects": [
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"inheritance_mode": "AR,AD",
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],
"clinvar_disease": " H3 K27-altered,Diffuse midline glioma,Hereditary cancer,Hereditary cancer-predisposing syndrome,Tumor predisposition syndrome 3,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:8 LB:2",
"phenotype_combined": "Tumor predisposition syndrome 3|Hereditary cancer-predisposing syndrome|not specified|not provided|Hereditary cancer|Diffuse midline glioma, H3 K27-altered",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}