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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: 8-58601546-G-GAAAAAAAAAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=58601546&ref=G&alt=GAAAAAAAAAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 58601546,
"ref": "G",
"alt": "GAAAAAAAAAA",
"effect": "intron_variant",
"transcript": "ENST00000038176.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1126-21_1126-12dupTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_003580.4",
"protein_id": "NP_003571.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 917,
"cds_start": -4,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3574,
"mane_select": "ENST00000038176.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1126-21_1126-12dupTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000038176.8",
"protein_id": "ENSP00000038176.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 917,
"cds_start": -4,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3574,
"mane_select": "NM_003580.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1219-21_1219-12dupTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001144772.1",
"protein_id": "NP_001138244.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": -4,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1219-21_1219-12dupTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000427130.7",
"protein_id": "ENSP00000411012.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": -4,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1195-21_1195-12dupTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001413006.1",
"protein_id": "NP_001399935.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 940,
"cds_start": -4,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1150-21_1150-12dupTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001412998.1",
"protein_id": "NP_001399927.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 925,
"cds_start": -4,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1147-21_1147-12dupTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001412994.1",
"protein_id": "NP_001399923.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": -4,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1126-21_1126-12dupTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001413005.1",
"protein_id": "NP_001399934.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": -4,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1126-21_1126-12dupTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001412990.1",
"protein_id": "NP_001399919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 923,
"cds_start": -4,
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"cds_length": 2772,
"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1126-21_1126-12dupTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001412992.1",
"protein_id": "NP_001399921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 920,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 30,
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"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1126-21_1126-12dupTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001412995.1",
"protein_id": "NP_001399924.1",
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"cdna_start": null,
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},
{
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"consequences": [
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],
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"gene_symbol": "NSMAF",
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"transcript": "NM_001413002.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 28,
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"gene_symbol": "NSMAF",
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"hgvs_c": "c.1126-21_1126-12dupTTTTTTTTTT",
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"transcript": "NM_001412989.1",
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},
{
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],
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"gene_symbol": "NSMAF",
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},
{
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],
"exon_rank": null,
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"intron_rank": 13,
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"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.736-21_736-12dupTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001412996.1",
"protein_id": "NP_001399925.1",
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},
{
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],
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"gene_symbol": "NSMAF",
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"hgvs_c": "c.736-21_736-12dupTTTTTTTTTT",
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},
{
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],
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"intron_rank": 15,
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"gene_symbol": "NSMAF",
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"hgvs_c": "c.736-21_736-12dupTTTTTTTTTT",
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"transcript": "NM_001412999.1",
"protein_id": "NP_001399928.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 32,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.736-21_736-12dupTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001413000.1",
"protein_id": "NP_001399929.1",
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},
{
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],
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"hgvs_p": null,
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},
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],
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"intron_rank": 16,
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},
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],
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"gene_symbol": "NSMAF",
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"protein_id": "NP_001399933.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.718-21_718-12dupTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001412988.1",
"protein_id": "NP_001399917.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 14,
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}