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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: 1-204952014-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=204952014&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 204952014,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001378329.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.113C>A",
"hgvs_p": "p.Thr38Lys",
"transcript": "NM_001005388.3",
"protein_id": "NP_001005388.2",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 1240,
"cds_start": 113,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000339876.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005388.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.113C>A",
"hgvs_p": "p.Thr38Lys",
"transcript": "ENST00000339876.11",
"protein_id": "ENSP00000344786.6",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 1240,
"cds_start": 113,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001005388.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339876.11"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Thr32Lys",
"transcript": "NM_001160331.2",
"protein_id": "NP_001153803.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 1189,
"cds_start": 95,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000539706.6",
"biotype": "protein_coding",
"feature": "NM_001160331.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Thr32Lys",
"transcript": "ENST00000539706.6",
"protein_id": "ENSP00000438614.2",
"transcript_support_level": 5,
"aa_start": 32,
"aa_end": null,
"aa_length": 1189,
"cds_start": 95,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_001160331.2",
"biotype": "protein_coding",
"feature": "ENST00000539706.6"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.113C>A",
"hgvs_p": "p.Thr38Lys",
"transcript": "ENST00000401399.5",
"protein_id": "ENSP00000385637.1",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 1240,
"cds_start": 113,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401399.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Thr32Lys",
"transcript": "ENST00000513543.6",
"protein_id": "ENSP00000425908.1",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 1169,
"cds_start": 95,
"cds_end": null,
"cds_length": 3510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513543.6"
},
{
"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": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "n.426C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000404977.6"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "n.503C>A",
"hgvs_p": null,
"transcript": "ENST00000514644.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000514644.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.113C>A",
"hgvs_p": "p.Thr38Lys",
"transcript": "NM_001378329.1",
"protein_id": "NP_001365258.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 1347,
"cds_start": 113,
"cds_end": null,
"cds_length": 4044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378329.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.113C>A",
"hgvs_p": "p.Thr38Lys",
"transcript": "ENST00000903184.1",
"protein_id": "ENSP00000573243.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 1235,
"cds_start": 113,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903184.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.113C>A",
"hgvs_p": "p.Thr38Lys",
"transcript": "ENST00000944486.1",
"protein_id": "ENSP00000614545.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 1202,
"cds_start": 113,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944486.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Thr32Lys",
"transcript": "NM_001160332.2",
"protein_id": "NP_001153804.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 1174,
"cds_start": 95,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160332.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Thr32Lys",
"transcript": "ENST00000430393.7",
"protein_id": "ENSP00000415031.3",
"transcript_support_level": 5,
"aa_start": 32,
"aa_end": null,
"aa_length": 1174,
"cds_start": 95,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430393.7"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Thr32Lys",
"transcript": "NM_015090.4",
"protein_id": "NP_055905.2",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 1169,
"cds_start": 95,
"cds_end": null,
"cds_length": 3510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015090.4"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Thr32Lys",
"transcript": "ENST00000903183.1",
"protein_id": "ENSP00000573242.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 1167,
"cds_start": 95,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903183.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Thr32Lys",
"transcript": "ENST00000404076.5",
"protein_id": "ENSP00000385676.1",
"transcript_support_level": 5,
"aa_start": 32,
"aa_end": null,
"aa_length": 1157,
"cds_start": 95,
"cds_end": null,
"cds_length": 3474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404076.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.113C>A",
"hgvs_p": "p.Thr38Lys",
"transcript": "ENST00000903185.1",
"protein_id": "ENSP00000573244.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 1117,
"cds_start": 113,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903185.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.113C>A",
"hgvs_p": "p.Thr38Lys",
"transcript": "ENST00000927203.1",
"protein_id": "ENSP00000597262.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 1105,
"cds_start": 113,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927203.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Thr32Lys",
"transcript": "NM_001365986.1",
"protein_id": "NP_001352915.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 1062,
"cds_start": 95,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365986.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.20C>A",
"hgvs_p": "p.Thr7Lys",
"transcript": "ENST00000367173.7",
"protein_id": "ENSP00000356141.3",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 1040,
"cds_start": 20,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367173.7"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Thr32Lys",
"transcript": "NM_001378330.1",
"protein_id": "NP_001365259.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 630,
"cds_start": 95,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378330.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFASC",
"gene_hgnc_id": 29866,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Thr32Lys",
"transcript": "NM_001378331.1",
"protein_id": "NP_001365260.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 630,
"cds_start": 95,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378331.1"
},
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{
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}
],
"message": null
}