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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: 11-77891411-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=77891411&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 77891411,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033547.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2500C>A",
"hgvs_p": "p.Pro834Thr",
"transcript": "NM_033547.4",
"protein_id": "NP_291025.3",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 963,
"cds_start": 2500,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2525,
"cdna_end": null,
"cdna_length": 3146,
"mane_select": "ENST00000534064.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2500C>A",
"hgvs_p": "p.Pro834Thr",
"transcript": "ENST00000534064.6",
"protein_id": "ENSP00000434466.1",
"transcript_support_level": 1,
"aa_start": 834,
"aa_end": null,
"aa_length": 963,
"cds_start": 2500,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2525,
"cdna_end": null,
"cdna_length": 3146,
"mane_select": "NM_033547.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "n.*2411C>A",
"hgvs_p": null,
"transcript": "ENST00000433818.6",
"protein_id": "ENSP00000407787.2",
"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": 3459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "n.*2411C>A",
"hgvs_p": null,
"transcript": "ENST00000433818.6",
"protein_id": "ENSP00000407787.2",
"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": 3459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.329-9160G>T",
"hgvs_p": null,
"transcript": "ENST00000304716.12",
"protein_id": "ENSP00000307254.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": -4,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.228+21594G>T",
"hgvs_p": null,
"transcript": "ENST00000532481.5",
"protein_id": "ENSP00000433293.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 88,
"cds_start": -4,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2650C>A",
"hgvs_p": "p.Pro884Thr",
"transcript": "ENST00000695102.1",
"protein_id": "ENSP00000511693.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2650,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 2677,
"cdna_end": null,
"cdna_length": 4258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2500C>A",
"hgvs_p": "p.Pro834Thr",
"transcript": "ENST00000696971.1",
"protein_id": "ENSP00000513007.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 963,
"cds_start": 2500,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2525,
"cdna_end": null,
"cdna_length": 3146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2470C>A",
"hgvs_p": "p.Pro824Thr",
"transcript": "ENST00000695310.1",
"protein_id": "ENSP00000511799.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 953,
"cds_start": 2470,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 2494,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2440C>A",
"hgvs_p": "p.Pro814Thr",
"transcript": "ENST00000695316.1",
"protein_id": "ENSP00000511801.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 943,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 2464,
"cdna_end": null,
"cdna_length": 3387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2419C>A",
"hgvs_p": "p.Pro807Thr",
"transcript": "ENST00000695103.1",
"protein_id": "ENSP00000511694.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 936,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2811,
"cdna_start": 2463,
"cdna_end": null,
"cdna_length": 3386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2500C>A",
"hgvs_p": "p.Pro834Thr",
"transcript": "ENST00000695104.1",
"protein_id": "ENSP00000511695.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 931,
"cds_start": 2500,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2572,
"cdna_end": null,
"cdna_length": 3162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2500C>A",
"hgvs_p": "p.Pro834Thr",
"transcript": "ENST00000695096.1",
"protein_id": "ENSP00000511686.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 910,
"cds_start": 2500,
"cds_end": null,
"cds_length": 2733,
"cdna_start": 2572,
"cdna_end": null,
"cdna_length": 5325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2170C>A",
"hgvs_p": "p.Pro724Thr",
"transcript": "ENST00000695308.1",
"protein_id": "ENSP00000511797.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 853,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 2566,
"cdna_end": null,
"cdna_length": 4147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2164C>A",
"hgvs_p": "p.Pro722Thr",
"transcript": "ENST00000695304.1",
"protein_id": "ENSP00000511793.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 851,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2165,
"cdna_end": null,
"cdna_length": 3746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2500C>A",
"hgvs_p": "p.Pro834Thr",
"transcript": "XM_017018560.3",
"protein_id": "XP_016874049.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 910,
"cds_start": 2500,
"cds_end": null,
"cds_length": 2733,
"cdna_start": 2525,
"cdna_end": null,
"cdna_length": 5407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "n.*2272C>A",
"hgvs_p": null,
"transcript": "ENST00000524766.6",
"protein_id": "ENSP00000436248.1",
"transcript_support_level": 3,
"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": 4166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "n.*1209C>A",
"hgvs_p": null,
"transcript": "ENST00000525931.2",
"protein_id": "ENSP00000511688.1",
"transcript_support_level": 3,
"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": 4332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "n.1320C>A",
"hgvs_p": null,
"transcript": "ENST00000531059.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 2901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "n.*718C>A",
"hgvs_p": null,
"transcript": "ENST00000535943.2",
"protein_id": "ENSP00000441084.2",
"transcript_support_level": 5,
"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": 3312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "n.*1994C>A",
"hgvs_p": null,
"transcript": "ENST00000695097.1",
"protein_id": "ENSP00000511687.1",
"transcript_support_level": null,
"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": 5460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "n.*2379C>A",
"hgvs_p": null,
"transcript": "ENST00000695098.1",
"protein_id": "ENSP00000511689.1",
"transcript_support_level": null,
"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": 4276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "n.*2304C>A",
"hgvs_p": null,
"transcript": "ENST00000695099.1",
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