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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: 14-91877585-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=91877585&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 91877585,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000342058.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Ala363Thr",
"transcript": "NM_006329.4",
"protein_id": "NP_006320.2",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 448,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": "ENST00000342058.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Ala363Thr",
"transcript": "ENST00000342058.9",
"protein_id": "ENSP00000345008.4",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 448,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": "NM_006329.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Ala404Thr",
"transcript": "ENST00000267620.14",
"protein_id": "ENSP00000267620.10",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 489,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Ala380Thr",
"transcript": "ENST00000556154.5",
"protein_id": "ENSP00000451982.2",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 465,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 1875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.1261G>A",
"hgvs_p": "p.Ala421Thr",
"transcript": "ENST00000706676.1",
"protein_id": "ENSP00000516492.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 506,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 2557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Ala404Thr",
"transcript": "NM_001384158.1",
"protein_id": "NP_001371087.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 489,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1675,
"cdna_end": null,
"cdna_length": 2748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Ala380Thr",
"transcript": "NM_001384159.1",
"protein_id": "NP_001371088.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 465,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Ala363Thr",
"transcript": "NM_001384160.1",
"protein_id": "NP_001371089.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 464,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Ala363Thr",
"transcript": "ENST00000706677.1",
"protein_id": "ENSP00000516493.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 464,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 2780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Ala307Thr",
"transcript": "NM_001384161.1",
"protein_id": "NP_001371090.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 408,
"cds_start": 919,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 1653,
"cdna_end": null,
"cdna_length": 2905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Ala307Thr",
"transcript": "NM_001384162.1",
"protein_id": "NP_001371091.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 392,
"cds_start": 919,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1653,
"cdna_end": null,
"cdna_length": 2726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Ala307Thr",
"transcript": "ENST00000557570.2",
"protein_id": "ENSP00000450787.2",
"transcript_support_level": 3,
"aa_start": 307,
"aa_end": null,
"aa_length": 392,
"cds_start": 919,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 2615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Ala307Thr",
"transcript": "ENST00000706679.1",
"protein_id": "ENSP00000516494.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 392,
"cds_start": 919,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Ala380Thr",
"transcript": "XM_011536356.2",
"protein_id": "XP_011534658.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 481,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 2644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "n.213G>A",
"hgvs_p": null,
"transcript": "ENST00000554121.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "n.*1053G>A",
"hgvs_p": null,
"transcript": "ENST00000557088.6",
"protein_id": "ENSP00000451002.1",
"transcript_support_level": 3,
"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": 2706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "n.902G>A",
"hgvs_p": null,
"transcript": "ENST00000706675.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "n.1007G>A",
"hgvs_p": null,
"transcript": "ENST00000706678.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "n.*930G>A",
"hgvs_p": null,
"transcript": "ENST00000706680.1",
"protein_id": "ENSP00000516495.1",
"transcript_support_level": null,
"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": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "n.*826G>A",
"hgvs_p": null,
"transcript": "ENST00000706681.1",
"protein_id": "ENSP00000516496.1",
"transcript_support_level": null,
"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": 2468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "n.*1053G>A",
"hgvs_p": null,
"transcript": "ENST00000557088.6",
"protein_id": "ENSP00000451002.1",
"transcript_support_level": 3,
"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": 2706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "n.*930G>A",
"hgvs_p": null,
"transcript": "ENST00000706680.1",
"protein_id": "ENSP00000516495.1",
"transcript_support_level": null,
"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": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"hgvs_c": "n.*826G>A",
"hgvs_p": null,
"transcript": "ENST00000706681.1",
"protein_id": "ENSP00000516496.1",
"transcript_support_level": null,
"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": 2468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FBLN5",
"gene_hgnc_id": 3602,
"dbsnp": "rs121434302",
"frequency_reference_population": 0.000054527383,
"hom_count_reference_population": 0,
"allele_count_reference_population": 88,
"gnomad_exomes_af": 0.0000567834,
"gnomad_genomes_af": 0.0000328576,
"gnomad_exomes_ac": 83,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1674639880657196,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.487,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1479,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.224,
"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,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP5,BP4",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 1,
"pathogenic_score": 1,
"criteria": [
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000342058.9",
"gene_symbol": "FBLN5",
"hgnc_id": 3602,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,SD,AR",
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Ala363Thr"
}
],
"clinvar_disease": " 3, age-related,Age-related macular degeneration,Macular degeneration,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:1",
"phenotype_combined": "Macular degeneration, age-related, 3|not provided|Age-related macular degeneration",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}