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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: 18-50269259-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=50269259&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 50269259,
"ref": "C",
"alt": "A",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000269468.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.*592G>T",
"hgvs_p": null,
"transcript": "NM_015846.4",
"protein_id": "NP_056671.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": -4,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3009,
"mane_select": "ENST00000269468.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.*592G>T",
"hgvs_p": null,
"transcript": "ENST00000269468.10",
"protein_id": "ENSP00000269468.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": -4,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3009,
"mane_select": "NM_015846.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.*370G>T",
"hgvs_p": null,
"transcript": "ENST00000590208.5",
"protein_id": "ENSP00000468785.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 655,
"cds_start": -4,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.*592G>T",
"hgvs_p": null,
"transcript": "ENST00000353909.7",
"protein_id": "ENSP00000269469.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 556,
"cds_start": -4,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.*752G>T",
"hgvs_p": null,
"transcript": "ENST00000339998.10",
"protein_id": "ENSP00000339546.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 550,
"cds_start": -4,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.*592G>T",
"hgvs_p": null,
"transcript": "ENST00000347968.7",
"protein_id": "ENSP00000285102.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": -4,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3091,
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1629-1596G>T",
"hgvs_p": null,
"transcript": "ENST00000585672.5",
"protein_id": "ENSP00000466092.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 567,
"cds_start": -4,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2532,
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1173-1596G>T",
"hgvs_p": null,
"transcript": "ENST00000592060.5",
"protein_id": "ENSP00000467606.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 415,
"cds_start": -4,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.*370G>T",
"hgvs_p": null,
"transcript": "NM_001323942.2",
"protein_id": "NP_001310871.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": -4,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.*370G>T",
"hgvs_p": null,
"transcript": "ENST00000705655.1",
"protein_id": "ENSP00000516153.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.*370G>T",
"hgvs_p": null,
"transcript": "NM_001323947.2",
"protein_id": "NP_001310876.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 665,
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.*417G>T",
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"transcript": "NM_001388145.1",
"protein_id": "NP_001375074.1",
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.*370G>T",
"hgvs_p": null,
"transcript": "NM_001399879.1",
"protein_id": "NP_001386808.1",
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"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.*592G>T",
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"transcript": "NM_001399880.1",
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},
{
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"3_prime_UTR_variant"
],
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"intron_rank": null,
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"gene_symbol": "MBD1",
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"hgvs_c": "c.*370G>T",
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"transcript": "NM_001204136.2",
"protein_id": "NP_001191065.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.*370G>T",
"hgvs_p": null,
"transcript": "NM_001399881.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.*370G>T",
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"transcript": "NM_001399882.1",
"protein_id": "NP_001386811.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.*417G>T",
"hgvs_p": null,
"transcript": "NM_001388146.1",
"protein_id": "NP_001375075.1",
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.*370G>T",
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"transcript": "NM_001388148.1",
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},
{
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],
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"exon_count": 16,
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"gene_symbol": "MBD1",
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"hgvs_c": "c.*417G>T",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
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"transcript": "NM_001399884.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.*417G>T",
"hgvs_p": null,
"transcript": "NM_001399885.1",
"protein_id": "NP_001386814.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.*370G>T",
"hgvs_p": null,
"transcript": "NM_001388150.1",
"protein_id": "NP_001375079.1",
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"aa_start": null,
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"cdna_start": null,
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}
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}