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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: 2-30912318-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=30912318&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 30912318,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000349752.10",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1405C>A",
"hgvs_p": "p.Gln469Lys",
"transcript": "NM_024572.4",
"protein_id": "NP_078848.2",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 552,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1759,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": "ENST00000349752.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1405C>A",
"hgvs_p": "p.Gln469Lys",
"transcript": "ENST00000349752.10",
"protein_id": "ENSP00000288988.6",
"transcript_support_level": 1,
"aa_start": 469,
"aa_end": null,
"aa_length": 552,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1759,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": "NM_024572.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1420C>A",
"hgvs_p": "p.Gln474Lys",
"transcript": "NM_001253826.2",
"protein_id": "NP_001240755.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 557,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1420C>A",
"hgvs_p": "p.Gln474Lys",
"transcript": "ENST00000324589.9",
"protein_id": "ENSP00000314500.5",
"transcript_support_level": 2,
"aa_start": 474,
"aa_end": null,
"aa_length": 557,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1481,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1345C>A",
"hgvs_p": "p.Gln449Lys",
"transcript": "NM_001253827.2",
"protein_id": "NP_001240756.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 532,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1825,
"cdna_end": null,
"cdna_length": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1345C>A",
"hgvs_p": "p.Gln449Lys",
"transcript": "NM_001329096.2",
"protein_id": "NP_001316025.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 532,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1944,
"cdna_end": null,
"cdna_length": 2632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1345C>A",
"hgvs_p": "p.Gln449Lys",
"transcript": "ENST00000406653.5",
"protein_id": "ENSP00000385435.1",
"transcript_support_level": 2,
"aa_start": 449,
"aa_end": null,
"aa_length": 532,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1809,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1300C>A",
"hgvs_p": "p.Gln434Lys",
"transcript": "NM_001329095.2",
"protein_id": "NP_001316024.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 517,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1892,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1176C>A",
"hgvs_p": "p.Ser392Arg",
"transcript": "NM_001329097.2",
"protein_id": "NP_001316026.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 435,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1530,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1345C>A",
"hgvs_p": "p.Gln449Lys",
"transcript": "XM_047445827.1",
"protein_id": "XP_047301783.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 532,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1071C>A",
"hgvs_p": "p.Ser357Arg",
"transcript": "XM_017004907.2",
"protein_id": "XP_016860396.2",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 400,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 1868,
"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": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "n.288C>A",
"hgvs_p": null,
"transcript": "ENST00000475320.5",
"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": 844,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "n.589C>A",
"hgvs_p": null,
"transcript": "ENST00000486564.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1045,
"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": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "n.1409C>A",
"hgvs_p": null,
"transcript": "XR_001738941.2",
"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": 12636,
"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": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "n.1409C>A",
"hgvs_p": null,
"transcript": "XR_001738942.2",
"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": 1889,
"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": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "n.1180C>A",
"hgvs_p": null,
"transcript": "XR_001738943.2",
"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": 12407,
"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": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "n.1759C>A",
"hgvs_p": null,
"transcript": "XR_007081587.1",
"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": 2239,
"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": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "n.1759C>A",
"hgvs_p": null,
"transcript": "XR_007081588.1",
"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": 12986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"dbsnp": "rs2288101",
"frequency_reference_population": 0.23326024,
"hom_count_reference_population": 44944,
"allele_count_reference_population": 376406,
"gnomad_exomes_af": 0.235252,
"gnomad_genomes_af": 0.214119,
"gnomad_exomes_ac": 343839,
"gnomad_genomes_ac": 32567,
"gnomad_exomes_homalt": 41307,
"gnomad_genomes_homalt": 3637,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0016799569129943848,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.092,
"revel_prediction": "Benign",
"alphamissense_score": 0.126,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.427,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000349752.10",
"gene_symbol": "GALNT14",
"hgnc_id": 22946,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1405C>A",
"hgvs_p": "p.Gln469Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}