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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: 1-207322389-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=207322389&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 207322389,
"ref": "TG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000367064.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.110delG",
"hgvs_p": "p.Gly37fs",
"transcript": "NM_000574.5",
"protein_id": "NP_000565.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 381,
"cds_start": 110,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": "ENST00000367064.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.110delG",
"hgvs_p": "p.Gly37fs",
"transcript": "ENST00000367064.9",
"protein_id": "ENSP00000356031.4",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 381,
"cds_start": 110,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": "NM_000574.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.110delG",
"hgvs_p": "p.Gly37fs",
"transcript": "ENST00000367063.6",
"protein_id": "ENSP00000356030.2",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 444,
"cds_start": 110,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 1691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.110delG",
"hgvs_p": "p.Gly37fs",
"transcript": "ENST00000314754.12",
"protein_id": "ENSP00000316333.8",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 440,
"cds_start": 110,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 175,
"cdna_end": null,
"cdna_length": 2220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.110delG",
"hgvs_p": "p.Gly37fs",
"transcript": "ENST00000391921.9",
"protein_id": "ENSP00000375788.4",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 317,
"cds_start": 110,
"cds_end": null,
"cds_length": 954,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 1180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.110delG",
"hgvs_p": "p.Gly37fs",
"transcript": "NM_001300902.2",
"protein_id": "NP_001287831.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 444,
"cds_start": 110,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.110delG",
"hgvs_p": "p.Gly37fs",
"transcript": "NM_001114752.3",
"protein_id": "NP_001108224.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 440,
"cds_start": 110,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 2708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.110delG",
"hgvs_p": "p.Gly37fs",
"transcript": "NM_001300903.2",
"protein_id": "NP_001287832.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 439,
"cds_start": 110,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.110delG",
"hgvs_p": "p.Gly37fs",
"transcript": "ENST00000645323.1",
"protein_id": "ENSP00000496251.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 439,
"cds_start": 110,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 2110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.110delG",
"hgvs_p": "p.Gly37fs",
"transcript": "ENST00000695824.1",
"protein_id": "ENSP00000512201.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 391,
"cds_start": 110,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.110delG",
"hgvs_p": "p.Gly37fs",
"transcript": "NM_001300904.2",
"protein_id": "NP_001287833.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 384,
"cds_start": 110,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.110delG",
"hgvs_p": "p.Gly37fs",
"transcript": "ENST00000644836.1",
"protein_id": "ENSP00000495518.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 384,
"cds_start": 110,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 128,
"cdna_end": null,
"cdna_length": 1523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.110delG",
"hgvs_p": "p.Gly37fs",
"transcript": "ENST00000695828.1",
"protein_id": "ENSP00000512204.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 381,
"cds_start": 110,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 1414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.110delG",
"hgvs_p": "p.Gly37fs",
"transcript": "ENST00000695826.1",
"protein_id": "ENSP00000512203.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 362,
"cds_start": 110,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 1663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.137delG",
"hgvs_p": "p.Gly46fs",
"transcript": "ENST00000343420.6",
"protein_id": "ENSP00000340631.6",
"transcript_support_level": 5,
"aa_start": 46,
"aa_end": null,
"aa_length": 324,
"cds_start": 137,
"cds_end": null,
"cds_length": 976,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "c.110delG",
"hgvs_p": "p.Gly37fs",
"transcript": "ENST00000695823.1",
"protein_id": "ENSP00000512200.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 318,
"cds_start": 110,
"cds_end": null,
"cds_length": 957,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 1995,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "n.357delG",
"hgvs_p": null,
"transcript": "ENST00000695822.1",
"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": 1548,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "n.110delG",
"hgvs_p": null,
"transcript": "ENST00000695825.1",
"protein_id": "ENSP00000512202.1",
"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": 3200,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "n.338delG",
"hgvs_p": null,
"transcript": "ENST00000695827.1",
"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,
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"cdna_length": 3782,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "n.215delG",
"hgvs_p": null,
"transcript": "ENST00000695829.1",
"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": 1885,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "n.198delG",
"hgvs_p": null,
"transcript": "NR_125349.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2675,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "n.198delG",
"hgvs_p": null,
"transcript": "XR_007095644.1",
"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": 5537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"hgvs_c": "n.-74delG",
"hgvs_p": null,
"transcript": "ENST00000695830.1",
"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": 1191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CD55",
"gene_hgnc_id": 2665,
"dbsnp": "rs1135402915",
"frequency_reference_population": 6.8416205e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84162e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.524,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000367064.9",
"gene_symbol": "CD55",
"hgnc_id": 2665,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.110delG",
"hgvs_p": "p.Gly37fs"
}
],
"clinvar_disease": "Protein-losing enteropathy",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Protein-losing enteropathy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}