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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: 19-44908751-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44908751&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 44908751,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001302688.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.455G>C",
"hgvs_p": "p.Arg152Pro",
"transcript": "NM_000041.4",
"protein_id": "NP_000032.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 317,
"cds_start": 455,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000252486.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000041.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.455G>C",
"hgvs_p": "p.Arg152Pro",
"transcript": "ENST00000252486.9",
"protein_id": "ENSP00000252486.3",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 317,
"cds_start": 455,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000041.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252486.9"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.455G>C",
"hgvs_p": "p.Arg152Pro",
"transcript": "ENST00000425718.1",
"protein_id": "ENSP00000410423.1",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 218,
"cds_start": 455,
"cds_end": null,
"cds_length": 658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425718.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.533G>C",
"hgvs_p": "p.Arg178Pro",
"transcript": "NM_001302688.2",
"protein_id": "NP_001289617.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 343,
"cds_start": 533,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302688.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.509G>C",
"hgvs_p": "p.Arg170Pro",
"transcript": "ENST00000864831.1",
"protein_id": "ENSP00000534890.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 335,
"cds_start": 509,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864831.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.506G>C",
"hgvs_p": "p.Arg169Pro",
"transcript": "ENST00000864832.1",
"protein_id": "ENSP00000534891.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 334,
"cds_start": 506,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864832.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.455G>C",
"hgvs_p": "p.Arg152Pro",
"transcript": "NM_001302689.2",
"protein_id": "NP_001289618.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 317,
"cds_start": 455,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302689.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.455G>C",
"hgvs_p": "p.Arg152Pro",
"transcript": "NM_001302690.2",
"protein_id": "NP_001289619.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 317,
"cds_start": 455,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302690.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.455G>C",
"hgvs_p": "p.Arg152Pro",
"transcript": "NM_001302691.2",
"protein_id": "NP_001289620.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 317,
"cds_start": 455,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302691.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.455G>C",
"hgvs_p": "p.Arg152Pro",
"transcript": "ENST00000864817.1",
"protein_id": "ENSP00000534877.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 317,
"cds_start": 455,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864817.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.455G>C",
"hgvs_p": "p.Arg152Pro",
"transcript": "ENST00000864820.1",
"protein_id": "ENSP00000534879.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 317,
"cds_start": 455,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864820.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.455G>C",
"hgvs_p": "p.Arg152Pro",
"transcript": "ENST00000864822.1",
"protein_id": "ENSP00000534881.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 317,
"cds_start": 455,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864822.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.455G>C",
"hgvs_p": "p.Arg152Pro",
"transcript": "ENST00000864826.1",
"protein_id": "ENSP00000534885.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 317,
"cds_start": 455,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864826.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.455G>C",
"hgvs_p": "p.Arg152Pro",
"transcript": "ENST00000864828.1",
"protein_id": "ENSP00000534887.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 317,
"cds_start": 455,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864828.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.455G>C",
"hgvs_p": "p.Arg152Pro",
"transcript": "ENST00000864829.1",
"protein_id": "ENSP00000534888.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 317,
"cds_start": 455,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864829.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.455G>C",
"hgvs_p": "p.Arg152Pro",
"transcript": "ENST00000864834.1",
"protein_id": "ENSP00000534893.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 317,
"cds_start": 455,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864834.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.455G>C",
"hgvs_p": "p.Arg152Pro",
"transcript": "ENST00000864835.1",
"protein_id": "ENSP00000534894.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 317,
"cds_start": 455,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864835.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.455G>C",
"hgvs_p": "p.Arg152Pro",
"transcript": "ENST00000864836.1",
"protein_id": "ENSP00000534895.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 317,
"cds_start": 455,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864836.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.455G>C",
"hgvs_p": "p.Arg152Pro",
"transcript": "ENST00000864837.1",
"protein_id": "ENSP00000534896.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 317,
"cds_start": 455,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864837.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.455G>C",
"hgvs_p": "p.Arg152Pro",
"transcript": "ENST00000864838.1",
"protein_id": "ENSP00000534897.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 317,
"cds_start": 455,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864838.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.455G>C",
"hgvs_p": "p.Arg152Pro",
"transcript": "ENST00000864839.1",
"protein_id": "ENSP00000534898.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 317,
"cds_start": 455,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864839.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.455G>C",
"hgvs_p": "p.Arg152Pro",
"transcript": "ENST00000864840.1",
"protein_id": "ENSP00000534899.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 317,
"cds_start": 455,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864840.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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}
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}