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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: 12-85979474-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=85979474&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 85979474,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001351282.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Met418Val",
"transcript": "NM_001351288.2",
"protein_id": "NP_001338217.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 478,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 25268,
"mane_select": "ENST00000611864.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351288.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Met418Val",
"transcript": "ENST00000611864.5",
"protein_id": "ENSP00000481096.1",
"transcript_support_level": 5,
"aa_start": 418,
"aa_end": null,
"aa_length": 478,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 25268,
"mane_select": "NM_001351288.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611864.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Met418Val",
"transcript": "ENST00000621808.5",
"protein_id": "ENSP00000478300.1",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 478,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621808.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.1366A>G",
"hgvs_p": "p.Met456Val",
"transcript": "NM_001351282.2",
"protein_id": "NP_001338211.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 516,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 25356,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351282.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.1339A>G",
"hgvs_p": "p.Met447Val",
"transcript": "NM_001351283.2",
"protein_id": "NP_001338212.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 507,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 25372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351283.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.1339A>G",
"hgvs_p": "p.Met447Val",
"transcript": "NM_001351284.2",
"protein_id": "NP_001338213.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 507,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 25369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351284.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Met418Val",
"transcript": "NM_001351285.2",
"protein_id": "NP_001338214.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 478,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1913,
"cdna_end": null,
"cdna_length": 25720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351285.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Met418Val",
"transcript": "NM_001351286.2",
"protein_id": "NP_001338215.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 478,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 25655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351286.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Met418Val",
"transcript": "NM_001351287.2",
"protein_id": "NP_001338216.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 478,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 25218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351287.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Met418Val",
"transcript": "NM_001351289.2",
"protein_id": "NP_001338218.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 478,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1557,
"cdna_end": null,
"cdna_length": 25364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351289.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Met418Val",
"transcript": "NM_001351291.2",
"protein_id": "NP_001338220.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 478,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 2581,
"cdna_end": null,
"cdna_length": 26388,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351291.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Met418Val",
"transcript": "NM_013244.5",
"protein_id": "NP_037376.2",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 478,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1815,
"cdna_end": null,
"cdna_length": 25622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013244.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Met418Val",
"transcript": "ENST00000548651.6",
"protein_id": "ENSP00000447253.1",
"transcript_support_level": 5,
"aa_start": 418,
"aa_end": null,
"aa_length": 478,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 25471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548651.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Met418Val",
"transcript": "ENST00000552808.7",
"protein_id": "ENSP00000446647.1",
"transcript_support_level": 2,
"aa_start": 418,
"aa_end": null,
"aa_length": 478,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552808.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Met418Val",
"transcript": "ENST00000620241.5",
"protein_id": "ENSP00000477650.1",
"transcript_support_level": 2,
"aa_start": 418,
"aa_end": null,
"aa_length": 478,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 2457,
"cdna_end": null,
"cdna_length": 2875,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620241.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Met418Val",
"transcript": "ENST00000899085.1",
"protein_id": "ENSP00000569144.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 478,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 3254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899085.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Met418Val",
"transcript": "ENST00000899086.1",
"protein_id": "ENSP00000569145.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 478,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 2250,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899086.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Met418Val",
"transcript": "ENST00000899087.1",
"protein_id": "ENSP00000569146.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 478,
"cds_start": 1252,
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"cds_length": 1437,
"cdna_start": 2293,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899087.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Met418Val",
"transcript": "ENST00000899088.1",
"protein_id": "ENSP00000569147.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 478,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899088.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Met418Val",
"transcript": "ENST00000899089.1",
"protein_id": "ENSP00000569148.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 478,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 2285,
"cdna_end": null,
"cdna_length": 3036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899089.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Met418Val",
"transcript": "ENST00000929698.1",
"protein_id": "ENSP00000599757.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 478,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 4039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929698.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Met418Val",
"transcript": "ENST00000929699.1",
"protein_id": "ENSP00000599758.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 478,
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{
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{
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{
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],
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],
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"dbsnp": "rs142800914",
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03859490156173706,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.006,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.185,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_001351282.2",
"gene_symbol": "MGAT4C",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}