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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: 21-41440964-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=41440964&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 41440964,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000398598.8",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Ile223Ile",
"transcript": "NM_002462.5",
"protein_id": "NP_002453.2",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 662,
"cds_start": 669,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": "ENST00000398598.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Ile223Ile",
"transcript": "ENST00000398598.8",
"protein_id": "ENSP00000381599.3",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 662,
"cds_start": 669,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": "NM_002462.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Ile223Ile",
"transcript": "ENST00000455164.6",
"protein_id": "ENSP00000410523.2",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 662,
"cds_start": 669,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 2810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Ile223Ile",
"transcript": "NM_001144925.2",
"protein_id": "NP_001138397.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 662,
"cds_start": 669,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Ile223Ile",
"transcript": "NM_001178046.3",
"protein_id": "NP_001171517.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 662,
"cds_start": 669,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Ile223Ile",
"transcript": "NM_001438334.1",
"protein_id": "NP_001425263.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 662,
"cds_start": 669,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Ile223Ile",
"transcript": "NM_001438335.1",
"protein_id": "NP_001425264.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 662,
"cds_start": 669,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 2795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Ile223Ile",
"transcript": "NM_001438336.1",
"protein_id": "NP_001425265.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 662,
"cds_start": 669,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Ile223Ile",
"transcript": "NM_001438337.1",
"protein_id": "NP_001425266.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 662,
"cds_start": 669,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 2696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Ile223Ile",
"transcript": "ENST00000398600.6",
"protein_id": "ENSP00000381601.2",
"transcript_support_level": 2,
"aa_start": 223,
"aa_end": null,
"aa_length": 662,
"cds_start": 669,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1694,
"cdna_end": null,
"cdna_length": 3470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Ile223Ile",
"transcript": "ENST00000413778.6",
"protein_id": "ENSP00000408498.2",
"transcript_support_level": 5,
"aa_start": 223,
"aa_end": null,
"aa_length": 662,
"cds_start": 669,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 2672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Ile223Ile",
"transcript": "ENST00000417963.6",
"protein_id": "ENSP00000402215.2",
"transcript_support_level": 5,
"aa_start": 223,
"aa_end": null,
"aa_length": 662,
"cds_start": 669,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 2303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Ile223Ile",
"transcript": "ENST00000419044.6",
"protein_id": "ENSP00000392151.2",
"transcript_support_level": 3,
"aa_start": 223,
"aa_end": null,
"aa_length": 662,
"cds_start": 669,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1317,
"cdna_end": null,
"cdna_length": 3516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Ile223Ile",
"transcript": "ENST00000679445.1",
"protein_id": "ENSP00000505630.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 662,
"cds_start": 669,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1377,
"cdna_end": null,
"cdna_length": 3576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Ile223Ile",
"transcript": "ENST00000679464.1",
"protein_id": "ENSP00000505874.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 662,
"cds_start": 669,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 3653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Ile223Ile",
"transcript": "ENST00000679543.1",
"protein_id": "ENSP00000505047.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 662,
"cds_start": 669,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 3309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Ile223Ile",
"transcript": "ENST00000679626.1",
"protein_id": "ENSP00000506481.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 662,
"cds_start": 669,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1500,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Ile223Ile",
"transcript": "ENST00000679705.1",
"protein_id": "ENSP00000506372.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 662,
"cds_start": 669,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 3256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Ile223Ile",
"transcript": "ENST00000679911.1",
"protein_id": "ENSP00000505189.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 662,
"cds_start": 669,
"cds_end": null,
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"cdna_start": 1491,
"cdna_end": null,
"cdna_length": 3690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Ile223Ile",
"transcript": "ENST00000680176.1",
"protein_id": "ENSP00000506270.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 662,
"cds_start": 669,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 3302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Ile223Ile",
"transcript": "ENST00000680182.1",
"protein_id": "ENSP00000506395.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 662,
"cds_start": 669,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 3649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Ile223Ile",
"transcript": "ENST00000680347.1",
"protein_id": "ENSP00000506183.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 662,
"cds_start": 669,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1354,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
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}
],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.016,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000398598.8",
"gene_symbol": "MX1",
"hgnc_id": 7532,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Ile223Ile"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000411427.3",
"gene_symbol": "MX1-AS1",
"hgnc_id": 40383,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*92G>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}