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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: 3-196052016-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=196052016&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 196052016,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003234.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.2209C>G",
"hgvs_p": "p.Leu737Val",
"transcript": "NM_001128148.3",
"protein_id": "NP_001121620.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 760,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2280,
"cdna_end": null,
"cdna_length": 5012,
"mane_select": "ENST00000360110.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128148.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.2209C>G",
"hgvs_p": "p.Leu737Val",
"transcript": "ENST00000360110.9",
"protein_id": "ENSP00000353224.4",
"transcript_support_level": 1,
"aa_start": 737,
"aa_end": null,
"aa_length": 760,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2280,
"cdna_end": null,
"cdna_length": 5012,
"mane_select": "NM_001128148.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360110.9"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.2209C>G",
"hgvs_p": "p.Leu737Val",
"transcript": "ENST00000392396.7",
"protein_id": "ENSP00000376197.3",
"transcript_support_level": 1,
"aa_start": 737,
"aa_end": null,
"aa_length": 760,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2492,
"cdna_end": null,
"cdna_length": 5032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392396.7"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.1966C>G",
"hgvs_p": "p.Leu656Val",
"transcript": "ENST00000420415.5",
"protein_id": "ENSP00000390133.1",
"transcript_support_level": 1,
"aa_start": 656,
"aa_end": null,
"aa_length": 679,
"cds_start": 1966,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 2082,
"cdna_end": null,
"cdna_length": 4814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420415.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.2341C>G",
"hgvs_p": "p.Leu781Val",
"transcript": "ENST00000916320.1",
"protein_id": "ENSP00000586379.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 804,
"cds_start": 2341,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 2410,
"cdna_end": null,
"cdna_length": 5143,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916320.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.2314C>G",
"hgvs_p": "p.Leu772Val",
"transcript": "ENST00000698283.1",
"protein_id": "ENSP00000513649.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 795,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2385,
"cdna_end": null,
"cdna_length": 5113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698283.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.2239C>G",
"hgvs_p": "p.Leu747Val",
"transcript": "ENST00000916322.1",
"protein_id": "ENSP00000586381.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 770,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2310,
"cdna_end": null,
"cdna_length": 5039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916322.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.2227C>G",
"hgvs_p": "p.Leu743Val",
"transcript": "ENST00000966682.1",
"protein_id": "ENSP00000636741.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 766,
"cds_start": 2227,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2298,
"cdna_end": null,
"cdna_length": 5030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966682.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.2209C>G",
"hgvs_p": "p.Leu737Val",
"transcript": "NM_003234.4",
"protein_id": "NP_003225.2",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 760,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2492,
"cdna_end": null,
"cdna_length": 5224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003234.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.2209C>G",
"hgvs_p": "p.Leu737Val",
"transcript": "ENST00000698280.1",
"protein_id": "ENSP00000513646.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 760,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2672,
"cdna_end": null,
"cdna_length": 5400,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698280.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.2209C>G",
"hgvs_p": "p.Leu737Val",
"transcript": "ENST00000698291.1",
"protein_id": "ENSP00000513654.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 760,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2263,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698291.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.2209C>G",
"hgvs_p": "p.Leu737Val",
"transcript": "ENST00000873397.1",
"protein_id": "ENSP00000543456.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 760,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2287,
"cdna_end": null,
"cdna_length": 5016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873397.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.2209C>G",
"hgvs_p": "p.Leu737Val",
"transcript": "ENST00000916321.1",
"protein_id": "ENSP00000586380.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 760,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2473,
"cdna_end": null,
"cdna_length": 5205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916321.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.2209C>G",
"hgvs_p": "p.Leu737Val",
"transcript": "ENST00000966681.1",
"protein_id": "ENSP00000636740.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 760,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2326,
"cdna_end": null,
"cdna_length": 5057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966681.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.2209C>G",
"hgvs_p": "p.Leu737Val",
"transcript": "ENST00000966683.1",
"protein_id": "ENSP00000636742.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 760,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2400,
"cdna_end": null,
"cdna_length": 5132,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966683.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.2209C>G",
"hgvs_p": "p.Leu737Val",
"transcript": "ENST00000966685.1",
"protein_id": "ENSP00000636744.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 760,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2815,
"cdna_end": null,
"cdna_length": 5546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966685.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.2209C>G",
"hgvs_p": "p.Leu737Val",
"transcript": "ENST00000966686.1",
"protein_id": "ENSP00000636745.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 760,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2536,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966686.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.2185C>G",
"hgvs_p": "p.Leu729Val",
"transcript": "ENST00000916319.1",
"protein_id": "ENSP00000586378.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 752,
"cds_start": 2185,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 5059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916319.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.1987C>G",
"hgvs_p": "p.Leu663Val",
"transcript": "ENST00000698290.1",
"protein_id": "ENSP00000513653.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 686,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 2058,
"cdna_end": null,
"cdna_length": 4786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698290.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.1966C>G",
"hgvs_p": "p.Leu656Val",
"transcript": "NM_001313965.2",
"protein_id": "NP_001300894.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 679,
"cds_start": 1966,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 2078,
"cdna_end": null,
"cdna_length": 4810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001313965.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.1837C>G",
"hgvs_p": "p.Leu613Val",
"transcript": "ENST00000966684.1",
"protein_id": "ENSP00000636743.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 636,
"cds_start": 1837,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1908,
"cdna_end": null,
"cdna_length": 4637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966684.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.1546C>G",
"hgvs_p": "p.Leu516Val",
"transcript": "ENST00000698294.1",
"protein_id": "ENSP00000513655.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
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{
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{
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{
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],
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"dbsnp": "rs1291674789",
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3854159712791443,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.433,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1706,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.407,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003234.4",
"gene_symbol": "TFRC",
"hgnc_id": 11763,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.2209C>G",
"hgvs_p": "p.Leu737Val"
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{
"score": 1,
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"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000786798.1",
"gene_symbol": "ENSG00000286168",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.163-2678G>C",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}