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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: 1-204997300-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=204997300&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 204997300,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000339876.11",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.2913C>A",
"hgvs_p": "p.Ile971Ile",
"transcript": "NM_001005388.3",
"protein_id": "NP_001005388.2",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1240,
"cds_start": 2913,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 3243,
"cdna_end": null,
"cdna_length": 10336,
"mane_select": "ENST00000339876.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.2913C>A",
"hgvs_p": "p.Ile971Ile",
"transcript": "ENST00000339876.11",
"protein_id": "ENSP00000344786.6",
"transcript_support_level": 5,
"aa_start": 971,
"aa_end": null,
"aa_length": 1240,
"cds_start": 2913,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 3243,
"cdna_end": null,
"cdna_length": 10336,
"mane_select": "NM_001005388.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.2913C>A",
"hgvs_p": "p.Ile971Ile",
"transcript": "ENST00000401399.5",
"protein_id": "ENSP00000385637.1",
"transcript_support_level": 1,
"aa_start": 971,
"aa_end": null,
"aa_length": 1240,
"cds_start": 2913,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 3112,
"cdna_end": null,
"cdna_length": 10205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.117C>A",
"hgvs_p": "p.Ile39Ile",
"transcript": "ENST00000447819.1",
"protein_id": "ENSP00000416891.1",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 218,
"cds_start": 117,
"cds_end": null,
"cds_length": 657,
"cdna_start": 117,
"cdna_end": null,
"cdna_length": 2857,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "n.391C>A",
"hgvs_p": null,
"transcript": "ENST00000492085.1",
"protein_id": null,
"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": 3937,
"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": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.3136+5994C>A",
"hgvs_p": null,
"transcript": "NM_001160331.2",
"protein_id": "NP_001153803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1189,
"cds_start": -4,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10152,
"mane_select": null,
"mane_plus": "ENST00000539706.6",
"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": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.3136+5994C>A",
"hgvs_p": null,
"transcript": "ENST00000539706.6",
"protein_id": "ENSP00000438614.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1189,
"cds_start": -4,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10152,
"mane_select": null,
"mane_plus": "NM_001160331.2",
"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": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.3076+8494C>A",
"hgvs_p": null,
"transcript": "ENST00000513543.6",
"protein_id": "ENSP00000425908.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1169,
"cds_start": -4,
"cds_end": null,
"cds_length": 3510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "n.3549+8494C>A",
"hgvs_p": null,
"transcript": "ENST00000404977.6",
"protein_id": null,
"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": 4917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.3234C>A",
"hgvs_p": "p.Ile1078Ile",
"transcript": "NM_001378329.1",
"protein_id": "NP_001365258.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1347,
"cds_start": 3234,
"cds_end": null,
"cds_length": 4044,
"cdna_start": 3564,
"cdna_end": null,
"cdna_length": 10657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.3591C>A",
"hgvs_p": "p.Ile1197Ile",
"transcript": "XM_011509316.2",
"protein_id": "XP_011507618.2",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1466,
"cds_start": 3591,
"cds_end": null,
"cds_length": 4401,
"cdna_start": 3615,
"cdna_end": null,
"cdna_length": 10708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.3573C>A",
"hgvs_p": "p.Ile1191Ile",
"transcript": "XM_011509318.2",
"protein_id": "XP_011507620.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1460,
"cds_start": 3573,
"cds_end": null,
"cds_length": 4383,
"cdna_start": 3597,
"cdna_end": null,
"cdna_length": 10690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.3522C>A",
"hgvs_p": "p.Ile1174Ile",
"transcript": "XM_011509320.2",
"protein_id": "XP_011507622.1",
"transcript_support_level": null,
"aa_start": 1174,
"aa_end": null,
"aa_length": 1443,
"cds_start": 3522,
"cds_end": null,
"cds_length": 4332,
"cdna_start": 3546,
"cdna_end": null,
"cdna_length": 10639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.3501C>A",
"hgvs_p": "p.Ile1167Ile",
"transcript": "XM_011509311.3",
"protein_id": "XP_011507613.3",
"transcript_support_level": null,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1436,
"cds_start": 3501,
"cds_end": null,
"cds_length": 4311,
"cdna_start": 3678,
"cdna_end": null,
"cdna_length": 10771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.3498C>A",
"hgvs_p": "p.Ile1166Ile",
"transcript": "XM_011509312.1",
"protein_id": "XP_011507614.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1435,
"cds_start": 3498,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 3675,
"cdna_end": null,
"cdna_length": 10768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.3471C>A",
"hgvs_p": "p.Ile1157Ile",
"transcript": "XM_024454285.2",
"protein_id": "XP_024310053.2",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3471,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 3648,
"cdna_end": null,
"cdna_length": 10741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.3465C>A",
"hgvs_p": "p.Ile1155Ile",
"transcript": "XM_024454288.2",
"protein_id": "XP_024310056.2",
"transcript_support_level": null,
"aa_start": 1155,
"aa_end": null,
"aa_length": 1424,
"cds_start": 3465,
"cds_end": null,
"cds_length": 4275,
"cdna_start": 3642,
"cdna_end": null,
"cdna_length": 10735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.3453C>A",
"hgvs_p": "p.Ile1151Ile",
"transcript": "XM_017000733.1",
"protein_id": "XP_016856222.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1420,
"cds_start": 3453,
"cds_end": null,
"cds_length": 4263,
"cdna_start": 3630,
"cdna_end": null,
"cdna_length": 10723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.3447C>A",
"hgvs_p": "p.Ile1149Ile",
"transcript": "XM_011509314.1",
"protein_id": "XP_011507616.1",
"transcript_support_level": null,
"aa_start": 1149,
"aa_end": null,
"aa_length": 1418,
"cds_start": 3447,
"cds_end": null,
"cds_length": 4257,
"cdna_start": 3624,
"cdna_end": null,
"cdna_length": 10717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.3420C>A",
"hgvs_p": "p.Ile1140Ile",
"transcript": "XM_024454292.2",
"protein_id": "XP_024310060.2",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1409,
"cds_start": 3420,
"cds_end": null,
"cds_length": 4230,
"cdna_start": 3597,
"cdna_end": null,
"cdna_length": 10690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.3402C>A",
"hgvs_p": "p.Ile1134Ile",
"transcript": "XM_017000734.1",
"protein_id": "XP_016856223.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1403,
"cds_start": 3402,
"cds_end": null,
"cds_length": 4212,
"cdna_start": 3579,
"cdna_end": null,
"cdna_length": 10672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.3285C>A",
"hgvs_p": "p.Ile1095Ile",
"transcript": "XM_047449947.1",
"protein_id": "XP_047305903.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1364,
"cds_start": 3285,
"cds_end": null,
"cds_length": 4095,
"cdna_start": 3644,
"cdna_end": null,
"cdna_length": 10737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
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