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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: 4-1805396-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1805396&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 1805396,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000440486.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1454A>G",
"hgvs_p": "p.Gln485Arg",
"transcript": "NM_000142.5",
"protein_id": "NP_000133.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 806,
"cds_start": 1454,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 4301,
"mane_select": "ENST00000440486.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1454A>G",
"hgvs_p": "p.Gln485Arg",
"transcript": "ENST00000440486.8",
"protein_id": "ENSP00000414914.2",
"transcript_support_level": 5,
"aa_start": 485,
"aa_end": null,
"aa_length": 806,
"cds_start": 1454,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 4301,
"mane_select": "NM_000142.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1457A>G",
"hgvs_p": "p.Gln486Arg",
"transcript": "ENST00000481110.7",
"protein_id": "ENSP00000420533.2",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 792,
"cds_start": 1457,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 4149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1118A>G",
"hgvs_p": "p.Gln373Arg",
"transcript": "ENST00000352904.6",
"protein_id": "ENSP00000231803.1",
"transcript_support_level": 1,
"aa_start": 373,
"aa_end": null,
"aa_length": 694,
"cds_start": 1118,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 2184,
"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": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "n.*510A>G",
"hgvs_p": null,
"transcript": "ENST00000260795.8",
"protein_id": "ENSP00000260795.3",
"transcript_support_level": 1,
"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": 2841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "n.*510A>G",
"hgvs_p": null,
"transcript": "ENST00000260795.8",
"protein_id": "ENSP00000260795.3",
"transcript_support_level": 1,
"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": 2841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Gln487Arg",
"transcript": "NM_001163213.2",
"protein_id": "NP_001156685.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 808,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1735,
"cdna_end": null,
"cdna_length": 4307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Gln487Arg",
"transcript": "ENST00000340107.9",
"protein_id": "ENSP00000339824.4",
"transcript_support_level": 5,
"aa_start": 487,
"aa_end": null,
"aa_length": 808,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1735,
"cdna_end": null,
"cdna_length": 4307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1457A>G",
"hgvs_p": "p.Gln486Arg",
"transcript": "NM_001354809.2",
"protein_id": "NP_001341738.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 807,
"cds_start": 1457,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1732,
"cdna_end": null,
"cdna_length": 4304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1442A>G",
"hgvs_p": "p.Gln481Arg",
"transcript": "ENST00000412135.7",
"protein_id": "ENSP00000412903.3",
"transcript_support_level": 5,
"aa_start": 481,
"aa_end": null,
"aa_length": 802,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 1717,
"cdna_end": null,
"cdna_length": 4294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1457A>G",
"hgvs_p": "p.Gln486Arg",
"transcript": "NM_001354810.2",
"protein_id": "NP_001341739.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 792,
"cds_start": 1457,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1732,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1118A>G",
"hgvs_p": "p.Gln373Arg",
"transcript": "NM_022965.4",
"protein_id": "NP_075254.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 694,
"cds_start": 1118,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 3965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1466A>G",
"hgvs_p": "p.Gln489Arg",
"transcript": "XM_006713868.2",
"protein_id": "XP_006713931.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 811,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1741,
"cdna_end": null,
"cdna_length": 4316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1466A>G",
"hgvs_p": "p.Gln489Arg",
"transcript": "XM_047449820.1",
"protein_id": "XP_047305776.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 811,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1618,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1466A>G",
"hgvs_p": "p.Gln489Arg",
"transcript": "XM_006713869.2",
"protein_id": "XP_006713932.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 810,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1741,
"cdna_end": null,
"cdna_length": 4313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1463A>G",
"hgvs_p": "p.Gln488Arg",
"transcript": "XM_006713870.2",
"protein_id": "XP_006713933.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 810,
"cds_start": 1463,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 4313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Gln487Arg",
"transcript": "XM_006713871.2",
"protein_id": "XP_006713934.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 809,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 1735,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Gln487Arg",
"transcript": "XM_011513420.2",
"protein_id": "XP_011511722.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 809,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 1735,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1463A>G",
"hgvs_p": "p.Gln488Arg",
"transcript": "XM_047449821.1",
"protein_id": "XP_047305777.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 809,
"cds_start": 1463,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1457A>G",
"hgvs_p": "p.Gln486Arg",
"transcript": "XM_011513422.2",
"protein_id": "XP_011511724.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 808,
"cds_start": 1457,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1732,
"cdna_end": null,
"cdna_length": 4307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1454A>G",
"hgvs_p": "p.Gln485Arg",
"transcript": "XM_006713873.2",
"protein_id": "XP_006713936.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 807,
"cds_start": 1454,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 4304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1457A>G",
"hgvs_p": "p.Gln486Arg",
"transcript": "XM_047449822.1",
"protein_id": "XP_047305778.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 807,
"cds_start": 1457,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1609,
"cdna_end": null,
"cdna_length": 4181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1454A>G",
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{
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{
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{
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],
"gene_symbol": "FGFR3",
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"dbsnp": "rs267606808",
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"gnomad_exomes_homalt": 0,
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.016,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
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"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000440486.8",
"gene_symbol": "FGFR3",
"hgnc_id": 3690,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.1454A>G",
"hgvs_p": "p.Gln485Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}