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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: 6-112155703-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=112155703&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 112155703,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000230538.12",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.1821G>A",
"hgvs_p": "p.Lys607Lys",
"transcript": "NM_001105206.3",
"protein_id": "NP_001098676.2",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1823,
"cds_start": 1821,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 7228,
"mane_select": "ENST00000230538.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.1821G>A",
"hgvs_p": "p.Lys607Lys",
"transcript": "ENST00000230538.12",
"protein_id": "ENSP00000230538.7",
"transcript_support_level": 1,
"aa_start": 607,
"aa_end": null,
"aa_length": 1823,
"cds_start": 1821,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 7228,
"mane_select": "NM_001105206.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.1800G>A",
"hgvs_p": "p.Lys600Lys",
"transcript": "ENST00000389463.9",
"protein_id": "ENSP00000374114.4",
"transcript_support_level": 1,
"aa_start": 600,
"aa_end": null,
"aa_length": 1816,
"cds_start": 1800,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 2050,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.1800G>A",
"hgvs_p": "p.Lys600Lys",
"transcript": "ENST00000522006.5",
"protein_id": "ENSP00000429488.1",
"transcript_support_level": 1,
"aa_start": 600,
"aa_end": null,
"aa_length": 1816,
"cds_start": 1800,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 2210,
"cdna_end": null,
"cdna_length": 6438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.1800G>A",
"hgvs_p": "p.Lys600Lys",
"transcript": "NM_001105207.3",
"protein_id": "NP_001098677.2",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 1816,
"cds_start": 1800,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 2067,
"cdna_end": null,
"cdna_length": 7224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.1800G>A",
"hgvs_p": "p.Lys600Lys",
"transcript": "NM_002290.5",
"protein_id": "NP_002281.3",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 1816,
"cds_start": 1800,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 2050,
"cdna_end": null,
"cdna_length": 7207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.1800G>A",
"hgvs_p": "p.Lys600Lys",
"transcript": "ENST00000424408.6",
"protein_id": "ENSP00000416470.2",
"transcript_support_level": 5,
"aa_start": 600,
"aa_end": null,
"aa_length": 1816,
"cds_start": 1800,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 2188,
"cdna_end": null,
"cdna_length": 5983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.1821G>A",
"hgvs_p": "p.Lys607Lys",
"transcript": "XM_005266983.5",
"protein_id": "XP_005267040.2",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1823,
"cds_start": 1821,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 2088,
"cdna_end": null,
"cdna_length": 7245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.1821G>A",
"hgvs_p": "p.Lys607Lys",
"transcript": "XM_005266984.5",
"protein_id": "XP_005267041.2",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1823,
"cds_start": 1821,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 2091,
"cdna_end": null,
"cdna_length": 7248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.1821G>A",
"hgvs_p": "p.Lys607Lys",
"transcript": "XM_047418769.1",
"protein_id": "XP_047274725.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1823,
"cds_start": 1821,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 2191,
"cdna_end": null,
"cdna_length": 7348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.1800G>A",
"hgvs_p": "p.Lys600Lys",
"transcript": "XM_017010854.3",
"protein_id": "XP_016866343.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 1816,
"cds_start": 1800,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 2070,
"cdna_end": null,
"cdna_length": 7227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.1800G>A",
"hgvs_p": "p.Lys600Lys",
"transcript": "XM_047418770.1",
"protein_id": "XP_047274726.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 1816,
"cds_start": 1800,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 2189,
"cdna_end": null,
"cdna_length": 7346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.1821G>A",
"hgvs_p": "p.Lys607Lys",
"transcript": "XM_047418771.1",
"protein_id": "XP_047274727.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1279,
"cds_start": 1821,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 2088,
"cdna_end": null,
"cdna_length": 4155,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "n.156G>A",
"hgvs_p": null,
"transcript": "ENST00000523765.1",
"protein_id": "ENSP00000427837.1",
"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": 1054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000237234",
"gene_hgnc_id": null,
"hgvs_c": "n.508C>T",
"hgvs_p": null,
"transcript": "ENST00000588689.1",
"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": 537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000237234",
"gene_hgnc_id": null,
"hgvs_c": "n.634C>T",
"hgvs_p": null,
"transcript": "ENST00000784580.1",
"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": 664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC107986633",
"gene_hgnc_id": null,
"hgvs_c": "n.823C>T",
"hgvs_p": null,
"transcript": "XR_001744299.2",
"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": 853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000237234",
"gene_hgnc_id": null,
"hgvs_c": "n.216+167C>T",
"hgvs_p": null,
"transcript": "ENST00000425503.2",
"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": 393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000237234",
"gene_hgnc_id": null,
"hgvs_c": "n.367+167C>T",
"hgvs_p": null,
"transcript": "ENST00000585373.5",
"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": 807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000237234",
"gene_hgnc_id": null,
"hgvs_c": "n.279+167C>T",
"hgvs_p": null,
"transcript": "ENST00000625600.2",
"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": 710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000237234",
"gene_hgnc_id": null,
"hgvs_c": "n.279+167C>T",
"hgvs_p": null,
"transcript": "ENST00000626024.2",
"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": 857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000237234",
"gene_hgnc_id": null,
"hgvs_c": "n.279+167C>T",
"hgvs_p": null,
"transcript": "ENST00000629996.2",
"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": 791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"dbsnp": "rs374481199",
"frequency_reference_population": 0.00019455807,
"hom_count_reference_population": 0,
"allele_count_reference_population": 314,
"gnomad_exomes_af": 0.000205242,
"gnomad_genomes_af": 0.0000919685,
"gnomad_exomes_ac": 300,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.134,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000230538.12",
"gene_symbol": "LAMA4",
"hgnc_id": 6484,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1821G>A",
"hgvs_p": "p.Lys607Lys"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000784580.1",
"gene_symbol": "ENSG00000237234",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.634C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "XR_001744299.2",
"gene_symbol": "LOC107986633",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.823C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Cardiomyopathy,Cardiovascular phenotype,Dilated cardiomyopathy 1JJ,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:1",
"phenotype_combined": "not specified|Cardiomyopathy|Dilated cardiomyopathy 1JJ|not provided|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}