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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: 2-30924226-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=30924226&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 30924226,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000349752.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Arg425*",
"transcript": "NM_024572.4",
"protein_id": "NP_078848.2",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 552,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": "ENST00000349752.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Arg425*",
"transcript": "ENST00000349752.10",
"protein_id": "ENSP00000288988.6",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 552,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": "NM_024572.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1288C>T",
"hgvs_p": "p.Arg430*",
"transcript": "NM_001253826.2",
"protein_id": "NP_001240755.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 557,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1642,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1288C>T",
"hgvs_p": "p.Arg430*",
"transcript": "ENST00000324589.9",
"protein_id": "ENSP00000314500.5",
"transcript_support_level": 2,
"aa_start": 430,
"aa_end": null,
"aa_length": 557,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Arg405*",
"transcript": "NM_001253827.2",
"protein_id": "NP_001240756.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 532,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1693,
"cdna_end": null,
"cdna_length": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Arg405*",
"transcript": "NM_001329096.2",
"protein_id": "NP_001316025.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 532,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 2632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Arg405*",
"transcript": "ENST00000406653.5",
"protein_id": "ENSP00000385435.1",
"transcript_support_level": 2,
"aa_start": 405,
"aa_end": null,
"aa_length": 532,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "NM_001329095.2",
"protein_id": "NP_001316024.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 517,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.Arg392*",
"transcript": "ENST00000430167.1",
"protein_id": "ENSP00000406399.1",
"transcript_support_level": 2,
"aa_start": 392,
"aa_end": null,
"aa_length": 399,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1202,
"cdna_start": 1591,
"cdna_end": null,
"cdna_length": 1619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Arg405*",
"transcript": "XM_047445827.1",
"protein_id": "XP_047301783.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 532,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 2166,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "n.156C>T",
"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": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "n.1277C>T",
"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": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "n.1277C>T",
"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": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "n.1627C>T",
"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": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "n.1627C>T",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1151+5169C>T",
"hgvs_p": null,
"transcript": "NM_001329097.2",
"protein_id": "NP_001316026.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 435,
"cds_start": -4,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "n.564+5169C>T",
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "c.1046+5169C>T",
"hgvs_p": null,
"transcript": "XM_017004907.2",
"protein_id": "XP_016860396.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 400,
"cds_start": -4,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"hgvs_c": "n.1155+5169C>T",
"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
}
],
"gene_symbol": "GALNT14",
"gene_hgnc_id": 22946,
"dbsnp": "rs201118996",
"frequency_reference_population": 0.00008240243,
"hom_count_reference_population": 0,
"allele_count_reference_population": 133,
"gnomad_exomes_af": 0.0000848229,
"gnomad_genomes_af": 0.0000591483,
"gnomad_exomes_ac": 124,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5899999737739563,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.20000000298023224,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.029,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.2,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP5_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000349752.10",
"gene_symbol": "GALNT14",
"hgnc_id": 22946,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Arg425*"
}
],
"clinvar_disease": "Non-immune hydrops fetalis,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Non-immune hydrops fetalis|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}