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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: 1-204952071-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=204952071&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 204952071,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001005388.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asp57Gly",
"transcript": "NM_001005388.3",
"protein_id": "NP_001005388.2",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1240,
"cds_start": 170,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 10336,
"mane_select": "ENST00000339876.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asp57Gly",
"transcript": "ENST00000339876.11",
"protein_id": "ENSP00000344786.6",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 1240,
"cds_start": 170,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 10336,
"mane_select": "NM_001005388.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.152A>G",
"hgvs_p": "p.Asp51Gly",
"transcript": "NM_001160331.2",
"protein_id": "NP_001153803.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 1189,
"cds_start": 152,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 10152,
"mane_select": null,
"mane_plus": "ENST00000539706.6",
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.152A>G",
"hgvs_p": "p.Asp51Gly",
"transcript": "ENST00000539706.6",
"protein_id": "ENSP00000438614.2",
"transcript_support_level": 5,
"aa_start": 51,
"aa_end": null,
"aa_length": 1189,
"cds_start": 152,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 10152,
"mane_select": null,
"mane_plus": "NM_001160331.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asp57Gly",
"transcript": "ENST00000401399.5",
"protein_id": "ENSP00000385637.1",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 1240,
"cds_start": 170,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 10205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.152A>G",
"hgvs_p": "p.Asp51Gly",
"transcript": "ENST00000513543.6",
"protein_id": "ENSP00000425908.1",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 1169,
"cds_start": 152,
"cds_end": null,
"cds_length": 3510,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 4180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "n.483A>G",
"hgvs_p": null,
"transcript": "ENST00000404977.6",
"protein_id": null,
"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": 4917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "n.560A>G",
"hgvs_p": null,
"transcript": "ENST00000514644.5",
"protein_id": null,
"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": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asp57Gly",
"transcript": "NM_001378329.1",
"protein_id": "NP_001365258.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1347,
"cds_start": 170,
"cds_end": null,
"cds_length": 4044,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 10657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.152A>G",
"hgvs_p": "p.Asp51Gly",
"transcript": "NM_001160332.2",
"protein_id": "NP_001153804.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 1174,
"cds_start": 152,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 10138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.152A>G",
"hgvs_p": "p.Asp51Gly",
"transcript": "ENST00000430393.7",
"protein_id": "ENSP00000415031.3",
"transcript_support_level": 5,
"aa_start": 51,
"aa_end": null,
"aa_length": 1174,
"cds_start": 152,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 5628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.152A>G",
"hgvs_p": "p.Asp51Gly",
"transcript": "NM_015090.4",
"protein_id": "NP_055905.2",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 1169,
"cds_start": 152,
"cds_end": null,
"cds_length": 3510,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 10123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.152A>G",
"hgvs_p": "p.Asp51Gly",
"transcript": "ENST00000404076.5",
"protein_id": "ENSP00000385676.1",
"transcript_support_level": 5,
"aa_start": 51,
"aa_end": null,
"aa_length": 1157,
"cds_start": 152,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 5728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.152A>G",
"hgvs_p": "p.Asp51Gly",
"transcript": "NM_001365986.1",
"protein_id": "NP_001352915.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 1062,
"cds_start": 152,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 9802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Asp26Gly",
"transcript": "ENST00000367173.7",
"protein_id": "ENSP00000356141.3",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 1040,
"cds_start": 77,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 79,
"cdna_end": null,
"cdna_length": 4957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.152A>G",
"hgvs_p": "p.Asp51Gly",
"transcript": "NM_001378330.1",
"protein_id": "NP_001365259.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 630,
"cds_start": 152,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.152A>G",
"hgvs_p": "p.Asp51Gly",
"transcript": "NM_001378331.1",
"protein_id": "NP_001365260.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 630,
"cds_start": 152,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 2623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.152A>G",
"hgvs_p": "p.Asp51Gly",
"transcript": "ENST00000680427.1",
"protein_id": "ENSP00000506661.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 630,
"cds_start": 152,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 2489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asp57Gly",
"transcript": "NM_001005389.2",
"protein_id": "NP_001005389.2",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 619,
"cds_start": 170,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asp57Gly",
"transcript": "ENST00000403080.5",
"protein_id": "ENSP00000384875.1",
"transcript_support_level": 2,
"aa_start": 57,
"aa_end": null,
"aa_length": 619,
"cds_start": 170,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.152A>G",
"hgvs_p": "p.Asp51Gly",
"transcript": "NM_001160333.2",
"protein_id": "NP_001153805.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 613,
"cds_start": 152,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asp57Gly",
"transcript": "ENST00000505079.5",
"protein_id": "ENSP00000427586.1",
"transcript_support_level": 4,
"aa_start": 57,
"aa_end": null,
"aa_length": 128,
"cds_start": 170,
"cds_end": null,
"cds_length": 389,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.476A>G",
"hgvs_p": "p.Asp159Gly",
"transcript": "XM_011509316.2",
"protein_id": "XP_011507618.2",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1466,
"cds_start": 476,
"cds_end": null,
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"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_001005388.3",
"gene_symbol": "NFASC",
"hgnc_id": 29866,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Asp57Gly"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}