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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: 18-2796004-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=2796004&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 2796004,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000320876.11",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCHD1",
"gene_hgnc_id": 29090,
"hgvs_c": "c.5775T>C",
"hgvs_p": "p.Asp1925Asp",
"transcript": "NM_015295.3",
"protein_id": "NP_056110.2",
"transcript_support_level": null,
"aa_start": 1925,
"aa_end": null,
"aa_length": 2005,
"cds_start": 5775,
"cds_end": null,
"cds_length": 6018,
"cdna_start": 6125,
"cdna_end": null,
"cdna_length": 8833,
"mane_select": "ENST00000320876.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCHD1",
"gene_hgnc_id": 29090,
"hgvs_c": "c.5775T>C",
"hgvs_p": "p.Asp1925Asp",
"transcript": "ENST00000320876.11",
"protein_id": "ENSP00000326603.7",
"transcript_support_level": 5,
"aa_start": 1925,
"aa_end": null,
"aa_length": 2005,
"cds_start": 5775,
"cds_end": null,
"cds_length": 6018,
"cdna_start": 6125,
"cdna_end": null,
"cdna_length": 8833,
"mane_select": "NM_015295.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCHD1",
"gene_hgnc_id": 29090,
"hgvs_c": "c.5643T>C",
"hgvs_p": "p.Asp1881Asp",
"transcript": "ENST00000688342.1",
"protein_id": "ENSP00000508422.1",
"transcript_support_level": null,
"aa_start": 1881,
"aa_end": null,
"aa_length": 1961,
"cds_start": 5643,
"cds_end": null,
"cds_length": 5886,
"cdna_start": 5993,
"cdna_end": null,
"cdna_length": 6488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCHD1",
"gene_hgnc_id": 29090,
"hgvs_c": "c.5775T>C",
"hgvs_p": "p.Asp1925Asp",
"transcript": "XM_011525642.2",
"protein_id": "XP_011523944.1",
"transcript_support_level": null,
"aa_start": 1925,
"aa_end": null,
"aa_length": 2067,
"cds_start": 5775,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 6125,
"cdna_end": null,
"cdna_length": 8936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCHD1",
"gene_hgnc_id": 29090,
"hgvs_c": "c.5391T>C",
"hgvs_p": "p.Asp1797Asp",
"transcript": "XM_047437427.1",
"protein_id": "XP_047293383.1",
"transcript_support_level": null,
"aa_start": 1797,
"aa_end": null,
"aa_length": 1939,
"cds_start": 5391,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 6049,
"cdna_end": null,
"cdna_length": 8860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCHD1",
"gene_hgnc_id": 29090,
"hgvs_c": "c.5211T>C",
"hgvs_p": "p.Asp1737Asp",
"transcript": "XM_047437425.1",
"protein_id": "XP_047293381.1",
"transcript_support_level": null,
"aa_start": 1737,
"aa_end": null,
"aa_length": 1879,
"cds_start": 5211,
"cds_end": null,
"cds_length": 5640,
"cdna_start": 5672,
"cdna_end": null,
"cdna_length": 8483,
"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": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCHD1",
"gene_hgnc_id": 29090,
"hgvs_c": "n.*164T>C",
"hgvs_p": null,
"transcript": "ENST00000577880.5",
"protein_id": "ENSP00000463049.1",
"transcript_support_level": 2,
"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": 4951,
"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": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCHD1",
"gene_hgnc_id": 29090,
"hgvs_c": "n.*3072T>C",
"hgvs_p": null,
"transcript": "ENST00000584897.5",
"protein_id": "ENSP00000464684.1",
"transcript_support_level": 2,
"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": 4143,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCHD1",
"gene_hgnc_id": 29090,
"hgvs_c": "n.675T>C",
"hgvs_p": null,
"transcript": "ENST00000642953.1",
"protein_id": "ENSP00000493989.1",
"transcript_support_level": null,
"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": 1263,
"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": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCHD1",
"gene_hgnc_id": 29090,
"hgvs_c": "n.*1182T>C",
"hgvs_p": null,
"transcript": "ENST00000645355.1",
"protein_id": "ENSP00000495392.1",
"transcript_support_level": null,
"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": 2315,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCHD1",
"gene_hgnc_id": 29090,
"hgvs_c": "n.2082T>C",
"hgvs_p": null,
"transcript": "ENST00000685656.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2988,
"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": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCHD1",
"gene_hgnc_id": 29090,
"hgvs_c": "n.*1334T>C",
"hgvs_p": null,
"transcript": "ENST00000686763.1",
"protein_id": "ENSP00000510263.1",
"transcript_support_level": null,
"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": 3793,
"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": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCHD1",
"gene_hgnc_id": 29090,
"hgvs_c": "n.*220T>C",
"hgvs_p": null,
"transcript": "ENST00000686864.1",
"protein_id": "ENSP00000509148.1",
"transcript_support_level": null,
"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": 3384,
"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": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCHD1",
"gene_hgnc_id": 29090,
"hgvs_c": "n.4504T>C",
"hgvs_p": null,
"transcript": "ENST00000688708.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5410,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCHD1",
"gene_hgnc_id": 29090,
"hgvs_c": "n.2284T>C",
"hgvs_p": null,
"transcript": "ENST00000688964.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3190,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCHD1",
"gene_hgnc_id": 29090,
"hgvs_c": "n.3722T>C",
"hgvs_p": null,
"transcript": "ENST00000689034.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4628,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCHD1",
"gene_hgnc_id": 29090,
"hgvs_c": "n.1892T>C",
"hgvs_p": null,
"transcript": "ENST00000689800.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2798,
"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": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCHD1",
"gene_hgnc_id": 29090,
"hgvs_c": "n.6125T>C",
"hgvs_p": null,
"transcript": "XR_001753172.2",
"protein_id": null,
"transcript_support_level": null,
"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": 9051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCHD1",
"gene_hgnc_id": 29090,
"hgvs_c": "n.*164T>C",
"hgvs_p": null,
"transcript": "ENST00000577880.5",
"protein_id": "ENSP00000463049.1",
"transcript_support_level": 2,
"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": 4951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCHD1",
"gene_hgnc_id": 29090,
"hgvs_c": "n.*3072T>C",
"hgvs_p": null,
"transcript": "ENST00000584897.5",
"protein_id": "ENSP00000464684.1",
"transcript_support_level": 2,
"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": 4143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCHD1",
"gene_hgnc_id": 29090,
"hgvs_c": "n.*1182T>C",
"hgvs_p": null,
"transcript": "ENST00000645355.1",
"protein_id": "ENSP00000495392.1",
"transcript_support_level": null,
"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": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCHD1",
"gene_hgnc_id": 29090,
"hgvs_c": "n.*1334T>C",
"hgvs_p": null,
"transcript": "ENST00000686763.1",
"protein_id": "ENSP00000510263.1",
"transcript_support_level": null,
"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": 3793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCHD1",
"gene_hgnc_id": 29090,
"hgvs_c": "n.*220T>C",
"hgvs_p": null,
"transcript": "ENST00000686864.1",
"protein_id": "ENSP00000509148.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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},
{
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},
{
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"upstream_gene_variant"
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}
],
"gene_symbol": "SMCHD1",
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"hom_count_reference_population": 0,
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"gnomad_genomes_af": 0.0000131432,
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"gnomad_genomes_ac": 2,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6899999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.471,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -3,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -3,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000320876.11",
"gene_symbol": "SMCHD1",
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"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5775T>C",
"hgvs_p": "p.Asp1925Asp"
},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000583546.1",
"gene_symbol": "ENSG00000266049",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.370+12451A>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}