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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: 1-46192528-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46192528&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46192528,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000371984.8",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1274G>C",
"hgvs_p": "p.Trp425Ser",
"transcript": "NM_017739.4",
"protein_id": "NP_060209.4",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 660,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 2719,
"mane_select": "ENST00000371984.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1274G>C",
"hgvs_p": "p.Trp425Ser",
"transcript": "ENST00000371984.8",
"protein_id": "ENSP00000361052.3",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 660,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 2719,
"mane_select": "NM_017739.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1274G>C",
"hgvs_p": "p.Trp425Ser",
"transcript": "NM_001243766.2",
"protein_id": "NP_001230695.2",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 748,
"cds_start": 1274,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1274G>C",
"hgvs_p": "p.Trp425Ser",
"transcript": "ENST00000371992.1",
"protein_id": "ENSP00000361060.1",
"transcript_support_level": 2,
"aa_start": 425,
"aa_end": null,
"aa_length": 748,
"cds_start": 1274,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1274G>C",
"hgvs_p": "p.Trp425Ser",
"transcript": "NM_001410783.1",
"protein_id": "NP_001397712.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 718,
"cds_start": 1274,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1708,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1274G>C",
"hgvs_p": "p.Trp425Ser",
"transcript": "NM_001438686.1",
"protein_id": "NP_001425615.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 718,
"cds_start": 1274,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 2342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1274G>C",
"hgvs_p": "p.Trp425Ser",
"transcript": "NM_001438688.1",
"protein_id": "NP_001425617.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 718,
"cds_start": 1274,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 2391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1274G>C",
"hgvs_p": "p.Trp425Ser",
"transcript": "ENST00000692369.1",
"protein_id": "ENSP00000508453.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 718,
"cds_start": 1274,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1274G>C",
"hgvs_p": "p.Trp425Ser",
"transcript": "ENST00000687149.1",
"protein_id": "ENSP00000509745.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 673,
"cds_start": 1274,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 2765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1274G>C",
"hgvs_p": "p.Trp425Ser",
"transcript": "NM_001437653.1",
"protein_id": "NP_001424582.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 660,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1274G>C",
"hgvs_p": "p.Trp425Ser",
"transcript": "NM_001438689.1",
"protein_id": "NP_001425618.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 660,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1708,
"cdna_end": null,
"cdna_length": 3004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1274G>C",
"hgvs_p": "p.Trp425Ser",
"transcript": "ENST00000396420.8",
"protein_id": "ENSP00000379698.4",
"transcript_support_level": 2,
"aa_start": 425,
"aa_end": null,
"aa_length": 660,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1408,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1274G>C",
"hgvs_p": "p.Trp425Ser",
"transcript": "ENST00000686737.1",
"protein_id": "ENSP00000508736.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 660,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1274G>C",
"hgvs_p": "p.Trp425Ser",
"transcript": "ENST00000687683.1",
"protein_id": "ENSP00000508522.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 660,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1208G>C",
"hgvs_p": "p.Trp403Ser",
"transcript": "NM_001290129.3",
"protein_id": "NP_001277058.2",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 638,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1208G>C",
"hgvs_p": "p.Trp403Ser",
"transcript": "NM_001438691.1",
"protein_id": "NP_001425620.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 638,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1208G>C",
"hgvs_p": "p.Trp403Ser",
"transcript": "NM_001438692.1",
"protein_id": "NP_001425621.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 638,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 3010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1175G>C",
"hgvs_p": "p.Trp392Ser",
"transcript": "ENST00000685444.1",
"protein_id": "ENSP00000510762.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 627,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 2635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1175G>C",
"hgvs_p": "p.Trp392Ser",
"transcript": "ENST00000688608.1",
"protein_id": "ENSP00000508890.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 627,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 2693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Trp282Ser",
"transcript": "NM_001290130.2",
"protein_id": "NP_001277059.2",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 517,
"cds_start": 845,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 2347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1274G>C",
"hgvs_p": "p.Trp425Ser",
"transcript": "XM_006710756.2",
"protein_id": "XP_006710819.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 748,
"cds_start": 1274,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 2432,
"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": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "n.1836G>C",
"hgvs_p": null,
"transcript": "ENST00000477114.2",
"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": 2438,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
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"hgvs_c": "n.-187G>C",
"hgvs_p": null,
"transcript": "ENST00000463030.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"dbsnp": "rs386834011",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9869049787521362,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.872,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9957,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.45,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.319,
"phylop100way_prediction": "Uncertain_significance",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000371984.8",
"gene_symbol": "POMGNT1",
"hgnc_id": 19139,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1274G>C",
"hgvs_p": "p.Trp425Ser"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "XM_011540460.4",
"gene_symbol": "TSPAN1",
"hgnc_id": 20657,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.679-3674C>G",
"hgvs_p": null
}
],
"clinvar_disease": " type A3,Muscle eye brain disease,Muscular dystrophy-dystroglycanopathy,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Muscle eye brain disease|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|Muscular dystrophy-dystroglycanopathy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}