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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: 2-172736006-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=172736006&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 172736006,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007023.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.23A>T",
"hgvs_p": "p.His8Leu",
"transcript": "NM_007023.4",
"protein_id": "NP_008954.2",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1011,
"cds_start": 23,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 4301,
"mane_select": "ENST00000397081.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007023.4"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.23A>T",
"hgvs_p": "p.His8Leu",
"transcript": "ENST00000397081.8",
"protein_id": "ENSP00000380271.3",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 1011,
"cds_start": 23,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 4301,
"mane_select": "NM_007023.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397081.8"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.23A>T",
"hgvs_p": "p.His8Leu",
"transcript": "ENST00000409036.5",
"protein_id": "ENSP00000387104.1",
"transcript_support_level": 5,
"aa_start": 8,
"aa_end": null,
"aa_length": 943,
"cds_start": 23,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 40,
"cdna_end": null,
"cdna_length": 3975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409036.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4-AS1",
"gene_hgnc_id": 28081,
"hgvs_c": "n.81+120T>A",
"hgvs_p": null,
"transcript": "ENST00000435328.1",
"protein_id": null,
"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": 4625,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000435328.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.23A>T",
"hgvs_p": "p.His8Leu",
"transcript": "ENST00000907815.1",
"protein_id": "ENSP00000577874.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1024,
"cds_start": 23,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 38,
"cdna_end": null,
"cdna_length": 4216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907815.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.23A>T",
"hgvs_p": "p.His8Leu",
"transcript": "ENST00000970621.1",
"protein_id": "ENSP00000640680.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1004,
"cds_start": 23,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 3209,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970621.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.23A>T",
"hgvs_p": "p.His8Leu",
"transcript": "NM_001375865.1",
"protein_id": "NP_001362794.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1000,
"cds_start": 23,
"cds_end": null,
"cds_length": 3003,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 4268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375865.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.23A>T",
"hgvs_p": "p.His8Leu",
"transcript": "NM_001375866.1",
"protein_id": "NP_001362795.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 993,
"cds_start": 23,
"cds_end": null,
"cds_length": 2982,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 4247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375866.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.23A>T",
"hgvs_p": "p.His8Leu",
"transcript": "NM_001375867.1",
"protein_id": "NP_001362796.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 980,
"cds_start": 23,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 4208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375867.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.23A>T",
"hgvs_p": "p.His8Leu",
"transcript": "NM_001375868.1",
"protein_id": "NP_001362797.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 962,
"cds_start": 23,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 4154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375868.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.23A>T",
"hgvs_p": "p.His8Leu",
"transcript": "ENST00000931068.1",
"protein_id": "ENSP00000601127.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 962,
"cds_start": 23,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 79,
"cdna_end": null,
"cdna_length": 3598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931068.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.23A>T",
"hgvs_p": "p.His8Leu",
"transcript": "NM_001375869.1",
"protein_id": "NP_001362798.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 960,
"cds_start": 23,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 4148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375869.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.23A>T",
"hgvs_p": "p.His8Leu",
"transcript": "ENST00000907813.1",
"protein_id": "ENSP00000577872.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 960,
"cds_start": 23,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 4167,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907813.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.23A>T",
"hgvs_p": "p.His8Leu",
"transcript": "NM_001375870.1",
"protein_id": "NP_001362799.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 949,
"cds_start": 23,
"cds_end": null,
"cds_length": 2850,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 4236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375870.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.23A>T",
"hgvs_p": "p.His8Leu",
"transcript": "NM_001375871.1",
"protein_id": "NP_001362800.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 944,
"cds_start": 23,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375871.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.23A>T",
"hgvs_p": "p.His8Leu",
"transcript": "ENST00000970620.1",
"protein_id": "ENSP00000640679.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 944,
"cds_start": 23,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 3103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970620.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.23A>T",
"hgvs_p": "p.His8Leu",
"transcript": "NM_001375872.1",
"protein_id": "NP_001362801.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 943,
"cds_start": 23,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375872.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.23A>T",
"hgvs_p": "p.His8Leu",
"transcript": "NM_001375873.1",
"protein_id": "NP_001362802.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 942,
"cds_start": 23,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 4094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375873.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.23A>T",
"hgvs_p": "p.His8Leu",
"transcript": "ENST00000907814.1",
"protein_id": "ENSP00000577873.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 942,
"cds_start": 23,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 4025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907814.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.23A>T",
"hgvs_p": "p.His8Leu",
"transcript": "NM_001375874.1",
"protein_id": "NP_001362803.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 931,
"cds_start": 23,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 4182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375874.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.23A>T",
"hgvs_p": "p.His8Leu",
"transcript": "ENST00000907812.1",
"protein_id": "ENSP00000577871.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 793,
"cds_start": 23,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 3666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907812.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF4",
"gene_hgnc_id": 16626,
"hgvs_c": "c.23A>T",
"hgvs_p": "p.His8Leu",
"transcript": "NM_001375875.1",
"protein_id": "NP_001362804.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 342,
"cds_start": 23,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 162,
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}
],
"message": null
}