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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: 3-12585745-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12585745&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 12585745,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001354689.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Thr491Ile",
"transcript": "NM_002880.4",
"protein_id": "NP_002871.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 648,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000251849.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002880.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Thr491Ile",
"transcript": "ENST00000251849.9",
"protein_id": "ENSP00000251849.4",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 648,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002880.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251849.9"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1532C>T",
"hgvs_p": "p.Thr511Ile",
"transcript": "NM_001354689.3",
"protein_id": "NP_001341618.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 668,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354689.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1532C>T",
"hgvs_p": "p.Thr511Ile",
"transcript": "ENST00000442415.7",
"protein_id": "ENSP00000401888.2",
"transcript_support_level": 5,
"aa_start": 511,
"aa_end": null,
"aa_length": 668,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442415.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1532C>T",
"hgvs_p": "p.Thr511Ile",
"transcript": "ENST00000900382.1",
"protein_id": "ENSP00000570441.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 668,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900382.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1532C>T",
"hgvs_p": "p.Thr511Ile",
"transcript": "ENST00000941486.1",
"protein_id": "ENSP00000611545.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 668,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941486.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Thr491Ile",
"transcript": "NM_001354690.3",
"protein_id": "NP_001341619.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 648,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354690.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Thr491Ile",
"transcript": "ENST00000685653.1",
"protein_id": "ENSP00000509968.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 648,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685653.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Thr491Ile",
"transcript": "ENST00000691899.1",
"protein_id": "ENSP00000508763.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 648,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691899.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Thr491Ile",
"transcript": "ENST00000900375.1",
"protein_id": "ENSP00000570434.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 648,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900375.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Thr491Ile",
"transcript": "ENST00000900377.1",
"protein_id": "ENSP00000570436.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 648,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900377.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Thr491Ile",
"transcript": "ENST00000900381.1",
"protein_id": "ENSP00000570440.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 648,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900381.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Thr491Ile",
"transcript": "ENST00000900383.1",
"protein_id": "ENSP00000570442.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 648,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900383.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Thr491Ile",
"transcript": "ENST00000941484.1",
"protein_id": "ENSP00000611543.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 648,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941484.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Thr491Ile",
"transcript": "ENST00000941488.1",
"protein_id": "ENSP00000611547.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 648,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941488.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Thr491Ile",
"transcript": "ENST00000941490.1",
"protein_id": "ENSP00000611549.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 648,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941490.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Thr491Ile",
"transcript": "ENST00000941491.1",
"protein_id": "ENSP00000611550.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 648,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941491.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Thr491Ile",
"transcript": "ENST00000941492.1",
"protein_id": "ENSP00000611551.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 648,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941492.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Thr491Ile",
"transcript": "ENST00000941494.1",
"protein_id": "ENSP00000611553.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 648,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941494.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Thr491Ile",
"transcript": "ENST00000941495.1",
"protein_id": "ENSP00000611554.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 648,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941495.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Thr491Ile",
"transcript": "ENST00000941496.1",
"protein_id": "ENSP00000611555.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 648,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941496.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1460C>T",
"hgvs_p": "p.Thr487Ile",
"transcript": "ENST00000690460.1",
"protein_id": "ENSP00000509106.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 644,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9246528148651123,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.859,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9957,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.996,
"phylop100way_prediction": "Pathogenic",
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PP3,PM2_Supporting,PS3_Moderate,PS2,PS4,PM1",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PP3",
"PM2_Supporting",
"PS3_Moderate",
"PS2",
"PS4",
"PM1"
],
"verdict": "Pathogenic",
"transcript": "NM_001354689.3",
"gene_symbol": "RAF1",
"hgnc_id": 9829,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1532C>T",
"hgvs_p": "p.Thr511Ile"
},
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000677142.1",
"gene_symbol": "MKRN2",
"hgnc_id": 7113,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*3492G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Cardiovascular phenotype,Noonan syndrome,Noonan syndrome with multiple lentigines,RASopathy,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:4 LP:1 O:1",
"phenotype_combined": "not provided|Noonan syndrome with multiple lentigines|Noonan syndrome|RASopathy|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}