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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: 4-127920826-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=127920826&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 127920826,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000641686.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.1361T>C",
"hgvs_p": "p.Met454Thr",
"transcript": "NM_001371596.2",
"protein_id": "NP_001358525.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 518,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": "ENST00000641686.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.1361T>C",
"hgvs_p": "p.Met454Thr",
"transcript": "ENST00000641686.2",
"protein_id": "ENSP00000493218.2",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 518,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": "NM_001371596.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.1361T>C",
"hgvs_p": "p.Met454Thr",
"transcript": "ENST00000296468.8",
"protein_id": "ENSP00000296468.3",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 518,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 4516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.1370T>C",
"hgvs_p": "p.Met457Thr",
"transcript": "NM_001371591.2",
"protein_id": "NP_001358520.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 521,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 4431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.1367T>C",
"hgvs_p": "p.Met456Thr",
"transcript": "NM_001371592.2",
"protein_id": "NP_001358521.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 520,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 4428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.1361T>C",
"hgvs_p": "p.Met454Thr",
"transcript": "NM_152778.4",
"protein_id": "NP_689991.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 518,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.1247T>C",
"hgvs_p": "p.Met416Thr",
"transcript": "NM_001371593.2",
"protein_id": "NP_001358522.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 480,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.1247T>C",
"hgvs_p": "p.Met416Thr",
"transcript": "ENST00000641186.1",
"protein_id": "ENSP00000493347.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 480,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 4448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.1226T>C",
"hgvs_p": "p.Met409Thr",
"transcript": "NM_001371590.2",
"protein_id": "NP_001358519.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 473,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1366,
"cdna_end": null,
"cdna_length": 4387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.1226T>C",
"hgvs_p": "p.Met409Thr",
"transcript": "ENST00000641178.1",
"protein_id": "ENSP00000492989.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 473,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.1214T>C",
"hgvs_p": "p.Met405Thr",
"transcript": "NM_001371594.2",
"protein_id": "NP_001358523.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 469,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 4275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.1160T>C",
"hgvs_p": "p.Met387Thr",
"transcript": "NM_001363520.3",
"protein_id": "NP_001350449.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 451,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 4221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.1160T>C",
"hgvs_p": "p.Met387Thr",
"transcript": "ENST00000641690.1",
"protein_id": "ENSP00000492966.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 451,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 4199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Met360Thr",
"transcript": "NM_001371595.1",
"protein_id": "NP_001358524.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 424,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 4346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Met360Thr",
"transcript": "ENST00000513559.6",
"protein_id": "ENSP00000425000.2",
"transcript_support_level": 2,
"aa_start": 360,
"aa_end": null,
"aa_length": 424,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 1813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.1046T>C",
"hgvs_p": "p.Met349Thr",
"transcript": "NM_001363521.3",
"protein_id": "NP_001350450.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 413,
"cds_start": 1046,
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"cdna_start": 1086,
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"cdna_length": 4107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.1046T>C",
"hgvs_p": "p.Met349Thr",
"transcript": "ENST00000641509.1",
"protein_id": "ENSP00000493459.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 413,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 4050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "NM_001410765.1",
"protein_id": "NP_001397694.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 368,
"cds_start": 911,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 4072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "ENST00000641147.1",
"protein_id": "ENSP00000493133.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
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"cds_start": 911,
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"cdna_start": 1072,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "ENST00000641393.1",
"protein_id": "ENSP00000493197.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 368,
"cds_start": 911,
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"cdna_start": 1103,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.1112T>C",
"hgvs_p": "p.Met371Thr",
"transcript": "XM_024453982.2",
"protein_id": "XP_024309750.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 435,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 4346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Met360Thr",
"transcript": "XM_047449992.1",
"protein_id": "XP_047305948.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 424,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 4313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
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],
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"dbsnp": "rs559155109",
"frequency_reference_population": 0.0000464718,
"hom_count_reference_population": 1,
"allele_count_reference_population": 75,
"gnomad_exomes_af": 0.0000492615,
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"gnomad_exomes_ac": 72,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.8492531776428223,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.858,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5973,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.396,
"phylop100way_prediction": "Pathogenic",
"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,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000641686.2",
"gene_symbol": "MFSD8",
"hgnc_id": 28486,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1361T>C",
"hgvs_p": "p.Met454Thr"
}
],
"clinvar_disease": "Cone-rod dystrophy,Inborn genetic diseases,Macular dystrophy with central cone involvement,Neuronal ceroid lipofuscinosis,Neuronal ceroid lipofuscinosis 7,Retinal dystrophy,Retinitis pigmentosa,Severe early-childhood-onset retinal dystrophy,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:7 LP:4",
"phenotype_combined": "not provided|Retinal dystrophy|Severe early-childhood-onset retinal dystrophy|Retinitis pigmentosa|Neuronal ceroid lipofuscinosis 7|Macular dystrophy with central cone involvement|Inborn genetic diseases|Neuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 7;Macular dystrophy with central cone involvement|Cone-rod dystrophy",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}