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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: 4-1806093-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1806093&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 1806093,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001163213.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1879G>C",
"hgvs_p": "p.Glu627Gln",
"transcript": "NM_000142.5",
"protein_id": "NP_000133.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 806,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2154,
"cdna_end": null,
"cdna_length": 4301,
"mane_select": "ENST00000440486.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000142.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1879G>C",
"hgvs_p": "p.Glu627Gln",
"transcript": "ENST00000440486.8",
"protein_id": "ENSP00000414914.2",
"transcript_support_level": 5,
"aa_start": 627,
"aa_end": null,
"aa_length": 806,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2154,
"cdna_end": null,
"cdna_length": 4301,
"mane_select": "NM_000142.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440486.8"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1882G>C",
"hgvs_p": "p.Glu628Gln",
"transcript": "ENST00000481110.7",
"protein_id": "ENSP00000420533.2",
"transcript_support_level": 1,
"aa_start": 628,
"aa_end": null,
"aa_length": 792,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2149,
"cdna_end": null,
"cdna_length": 4149,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481110.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1543G>C",
"hgvs_p": "p.Glu515Gln",
"transcript": "ENST00000352904.6",
"protein_id": "ENSP00000231803.1",
"transcript_support_level": 1,
"aa_start": 515,
"aa_end": null,
"aa_length": 694,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352904.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "n.*935G>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2841,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000260795.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "n.*935G>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2841,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000260795.8"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1888G>C",
"hgvs_p": "p.Glu630Gln",
"transcript": "ENST00000901225.1",
"protein_id": "ENSP00000571284.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 809,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 2163,
"cdna_end": null,
"cdna_length": 4316,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901225.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1885G>C",
"hgvs_p": "p.Glu629Gln",
"transcript": "NM_001163213.2",
"protein_id": "NP_001156685.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 808,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2160,
"cdna_end": null,
"cdna_length": 4307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163213.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1885G>C",
"hgvs_p": "p.Glu629Gln",
"transcript": "ENST00000340107.9",
"protein_id": "ENSP00000339824.4",
"transcript_support_level": 5,
"aa_start": 629,
"aa_end": null,
"aa_length": 808,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2160,
"cdna_end": null,
"cdna_length": 4307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340107.9"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1885G>C",
"hgvs_p": "p.Glu629Gln",
"transcript": "ENST00000901227.1",
"protein_id": "ENSP00000571286.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 808,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2081,
"cdna_end": null,
"cdna_length": 4230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901227.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1882G>C",
"hgvs_p": "p.Glu628Gln",
"transcript": "ENST00000955403.1",
"protein_id": "ENSP00000625462.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 808,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 4294,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955403.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1882G>C",
"hgvs_p": "p.Glu628Gln",
"transcript": "NM_001354809.2",
"protein_id": "NP_001341738.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 807,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 4304,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354809.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1882G>C",
"hgvs_p": "p.Glu628Gln",
"transcript": "ENST00000911470.1",
"protein_id": "ENSP00000581529.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 807,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 2164,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911470.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1879G>C",
"hgvs_p": "p.Glu627Gln",
"transcript": "ENST00000911473.1",
"protein_id": "ENSP00000581532.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 807,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 2152,
"cdna_end": null,
"cdna_length": 4302,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911473.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1882G>C",
"hgvs_p": "p.Glu628Gln",
"transcript": "ENST00000955404.1",
"protein_id": "ENSP00000625463.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 807,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 2086,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955404.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1879G>C",
"hgvs_p": "p.Glu627Gln",
"transcript": "ENST00000901226.1",
"protein_id": "ENSP00000571285.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 806,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901226.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1867G>C",
"hgvs_p": "p.Glu623Gln",
"transcript": "ENST00000412135.7",
"protein_id": "ENSP00000412903.3",
"transcript_support_level": 5,
"aa_start": 623,
"aa_end": null,
"aa_length": 802,
"cds_start": 1867,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 4294,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412135.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1843G>C",
"hgvs_p": "p.Glu615Gln",
"transcript": "ENST00000911472.1",
"protein_id": "ENSP00000581531.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 794,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2116,
"cdna_end": null,
"cdna_length": 4266,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911472.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1843G>C",
"hgvs_p": "p.Glu615Gln",
"transcript": "ENST00000911474.1",
"protein_id": "ENSP00000581533.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 794,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 4056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911474.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1840G>C",
"hgvs_p": "p.Glu614Gln",
"transcript": "ENST00000955402.1",
"protein_id": "ENSP00000625461.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 793,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 2114,
"cdna_end": null,
"cdna_length": 4259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955402.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1882G>C",
"hgvs_p": "p.Glu628Gln",
"transcript": "NM_001354810.2",
"protein_id": "NP_001341739.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 792,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354810.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR3",
"gene_hgnc_id": 3690,
"hgvs_c": "c.1792G>C",
"hgvs_p": "p.Glu598Gln",
"transcript": "ENST00000911471.1",
"protein_id": "ENSP00000581530.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 777,
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}
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}