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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: 4-1804435-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1804435&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FGFR3",
"hgnc_id": 3690,
"hgvs_c": "c.1187C>G",
"hgvs_p": "p.Thr396Arg",
"inheritance_mode": "AR,AD,SD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001163213.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.2898,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6590524315834045,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 806,
"aa_ref": "T",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4301,
"cdna_start": 1456,
"cds_end": null,
"cds_length": 2421,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000142.5",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.1181C>G",
"hgvs_p": "p.Thr394Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000440486.8",
"protein_coding": true,
"protein_id": "NP_000133.1",
"strand": true,
"transcript": "NM_000142.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 806,
"aa_ref": "T",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4301,
"cdna_start": 1456,
"cds_end": null,
"cds_length": 2421,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000440486.8",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.1181C>G",
"hgvs_p": "p.Thr394Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000142.5",
"protein_coding": true,
"protein_id": "ENSP00000414914.2",
"strand": true,
"transcript": "ENST00000440486.8",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 792,
"aa_ref": "T",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4149,
"cdna_start": 1448,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000481110.7",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.1181C>G",
"hgvs_p": "p.Thr394Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420533.2",
"strand": true,
"transcript": "ENST00000481110.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 694,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": null,
"cds_end": null,
"cds_length": 2085,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000352904.6",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.931-389C>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000231803.1",
"strand": true,
"transcript": "ENST00000352904.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2841,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000260795.8",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "n.*237C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000260795.3",
"strand": true,
"transcript": "ENST00000260795.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2841,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000260795.8",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "n.*237C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000260795.3",
"strand": true,
"transcript": "ENST00000260795.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 809,
"aa_ref": "T",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4316,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1187,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000901225.1",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.1187C>G",
"hgvs_p": "p.Thr396Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571284.1",
"strand": true,
"transcript": "ENST00000901225.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 808,
"aa_ref": "T",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4307,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 2427,
"cds_start": 1187,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001163213.2",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.1187C>G",
"hgvs_p": "p.Thr396Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001156685.1",
"strand": true,
"transcript": "NM_001163213.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 808,
"aa_ref": "T",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4307,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 2427,
"cds_start": 1187,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000340107.9",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.1187C>G",
"hgvs_p": "p.Thr396Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339824.4",
"strand": true,
"transcript": "ENST00000340107.9",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 808,
"aa_ref": "T",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4230,
"cdna_start": 1383,
"cds_end": null,
"cds_length": 2427,
"cds_start": 1187,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000901227.1",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.1187C>G",
"hgvs_p": "p.Thr396Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571286.1",
"strand": true,
"transcript": "ENST00000901227.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 808,
"aa_ref": "T",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4294,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 2427,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000955403.1",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.1181C>G",
"hgvs_p": "p.Thr394Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625462.1",
"strand": true,
"transcript": "ENST00000955403.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 807,
"aa_ref": "T",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4304,
"cdna_start": 1456,
"cds_end": null,
"cds_length": 2424,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001354809.2",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.1181C>G",
"hgvs_p": "p.Thr394Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341738.1",
"strand": true,
"transcript": "NM_001354809.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 807,
"aa_ref": "T",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4315,
"cdna_start": 1463,
"cds_end": null,
"cds_length": 2424,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000911470.1",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.1181C>G",
"hgvs_p": "p.Thr394Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581529.1",
"strand": true,
"transcript": "ENST00000911470.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 807,
"aa_ref": "T",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4302,
"cdna_start": 1454,
"cds_end": null,
"cds_length": 2424,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000911473.1",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.1181C>G",
"hgvs_p": "p.Thr394Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581532.1",
"strand": true,
"transcript": "ENST00000911473.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 807,
"aa_ref": "T",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4233,
"cdna_start": 1385,
"cds_end": null,
"cds_length": 2424,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000955404.1",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.1181C>G",
"hgvs_p": "p.Thr394Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625463.1",
"strand": true,
"transcript": "ENST00000955404.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 806,
"aa_ref": "T",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4233,
"cdna_start": 1382,
"cds_end": null,
"cds_length": 2421,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000901226.1",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.1181C>G",
"hgvs_p": "p.Thr394Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571285.1",
"strand": true,
"transcript": "ENST00000901226.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 802,
"aa_ref": "T",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4294,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 2409,
"cds_start": 1169,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000412135.7",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.1169C>G",
"hgvs_p": "p.Thr390Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412903.3",
"strand": true,
"transcript": "ENST00000412135.7",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 794,
"aa_ref": "T",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4266,
"cdna_start": 1454,
"cds_end": null,
"cds_length": 2385,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000911472.1",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.1181C>G",
"hgvs_p": "p.Thr394Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581531.1",
"strand": true,
"transcript": "ENST00000911472.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 794,
"aa_ref": "T",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4056,
"cdna_start": 1204,
"cds_end": null,
"cds_length": 2385,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000911474.1",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.1142C>G",
"hgvs_p": "p.Thr381Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581533.1",
"strand": true,
"transcript": "ENST00000911474.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 793,
"aa_ref": "T",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4259,
"cdna_start": 1416,
"cds_end": null,
"cds_length": 2382,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000955402.1",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.1142C>G",
"hgvs_p": "p.Thr381Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625461.1",
"strand": true,
"transcript": "ENST00000955402.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 792,
"aa_ref": "T",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4233,
"cdna_start": 1456,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001354810.2",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.1181C>G",
"hgvs_p": "p.Thr394Arg",
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