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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: 3-57896874-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=57896874&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 57896874,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000671191.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1443C>T",
"hgvs_p": "p.Asp481Asp",
"transcript": "NM_001377540.1",
"protein_id": "NP_001364469.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 842,
"cds_start": 1443,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2581,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": "ENST00000671191.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1443C>T",
"hgvs_p": "p.Asp481Asp",
"transcript": "ENST00000671191.1",
"protein_id": "ENSP00000499458.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 842,
"cds_start": 1443,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2581,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": "NM_001377540.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1329C>T",
"hgvs_p": "p.Asp443Asp",
"transcript": "ENST00000417128.7",
"protein_id": "ENSP00000412829.3",
"transcript_support_level": 1,
"aa_start": 443,
"aa_end": null,
"aa_length": 804,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 2532,
"cdna_end": null,
"cdna_length": 5455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1278C>T",
"hgvs_p": "p.Asp426Asp",
"transcript": "ENST00000449503.6",
"protein_id": "ENSP00000412945.2",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 790,
"cds_start": 1278,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1392C>T",
"hgvs_p": "p.Asp464Asp",
"transcript": "ENST00000438794.6",
"protein_id": "ENSP00000391886.2",
"transcript_support_level": 1,
"aa_start": 464,
"aa_end": null,
"aa_length": 778,
"cds_start": 1392,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2557,
"cdna_end": null,
"cdna_length": 4801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1278C>T",
"hgvs_p": "p.Asp426Asp",
"transcript": "ENST00000428312.6",
"protein_id": "ENSP00000398661.2",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 746,
"cds_start": 1278,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 4685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Asp71Asp",
"transcript": "ENST00000416658.5",
"protein_id": "ENSP00000389978.1",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 432,
"cds_start": 213,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 1570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.-7C>T",
"hgvs_p": null,
"transcript": "NM_001304422.3",
"protein_id": "NP_001291351.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": -4,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.-7C>T",
"hgvs_p": null,
"transcript": "NM_001311178.2",
"protein_id": "NP_001298107.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": -4,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.-7C>T",
"hgvs_p": null,
"transcript": "ENST00000494088.6",
"protein_id": "ENSP00000418218.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": -4,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.-7C>T",
"hgvs_p": null,
"transcript": "NM_001377926.1",
"protein_id": "NP_001364855.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": -4,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.-7C>T",
"hgvs_p": null,
"transcript": "NM_001377927.1",
"protein_id": "NP_001364856.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": -4,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.-7C>T",
"hgvs_p": null,
"transcript": "NM_001304423.3",
"protein_id": "NP_001291352.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": -4,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.-7C>T",
"hgvs_p": null,
"transcript": "NM_001311179.2",
"protein_id": "NP_001298108.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 271,
"cds_start": -4,
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"cds_length": 816,
"cdna_start": null,
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"cdna_length": 2331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.-7C>T",
"hgvs_p": null,
"transcript": "NM_001377928.1",
"protein_id": "NP_001364857.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": -4,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
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"cdna_length": 1091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.-7C>T",
"hgvs_p": null,
"transcript": "XM_011534106.3",
"protein_id": "XP_011532408.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": -4,
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"cds_length": 1089,
"cdna_start": null,
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"cdna_length": 3835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.-7C>T",
"hgvs_p": null,
"transcript": "NM_001304422.3",
"protein_id": "NP_001291351.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": -4,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.-7C>T",
"hgvs_p": null,
"transcript": "NM_001311178.2",
"protein_id": "NP_001298107.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3982,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.-7C>T",
"hgvs_p": null,
"transcript": "ENST00000494088.6",
"protein_id": "ENSP00000418218.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": -4,
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"cdna_start": null,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.-7C>T",
"hgvs_p": null,
"transcript": "NM_001377926.1",
"protein_id": "NP_001364855.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 321,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.-7C>T",
"hgvs_p": null,
"transcript": "NM_001377927.1",
"protein_id": "NP_001364856.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": -4,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.-7C>T",
"hgvs_p": null,
"transcript": "NM_001304423.3",
"protein_id": "NP_001291352.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": -4,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
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}
],
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}