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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: 7-36357395-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=36357395&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 36357395,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001199706.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.Gln74Arg",
"transcript": "NM_001199706.2",
"protein_id": "NP_001186635.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 517,
"cds_start": 221,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 4462,
"mane_select": "ENST00000440378.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.Gln74Arg",
"transcript": "ENST00000440378.6",
"protein_id": "ENSP00000390837.1",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 517,
"cds_start": 221,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 4462,
"mane_select": "NM_001199706.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.374A>G",
"hgvs_p": "p.Gln125Arg",
"transcript": "ENST00000297063.10",
"protein_id": "ENSP00000297063.6",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 520,
"cds_start": 374,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 4153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Gln112Arg",
"transcript": "ENST00000338533.9",
"protein_id": "ENSP00000344805.5",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 507,
"cds_start": 335,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.Gln74Arg",
"transcript": "ENST00000317020.10",
"protein_id": "ENSP00000319251.6",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 469,
"cds_start": 221,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 4241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Gln112Arg",
"transcript": "ENST00000415803.2",
"protein_id": "ENSP00000400749.2",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 304,
"cds_start": 335,
"cds_end": null,
"cds_length": 915,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 2865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.374A>G",
"hgvs_p": "p.Gln125Arg",
"transcript": "NM_001100425.2",
"protein_id": "NP_001093895.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 520,
"cds_start": 374,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 4454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Gln112Arg",
"transcript": "NM_001199707.2",
"protein_id": "NP_001186636.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 507,
"cds_start": 335,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.Gln74Arg",
"transcript": "NM_015314.3",
"protein_id": "NP_056129.2",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 469,
"cds_start": 221,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Gln112Arg",
"transcript": "XM_005249689.4",
"protein_id": "XP_005249746.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 555,
"cds_start": 335,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 4674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "n.482A>G",
"hgvs_p": null,
"transcript": "ENST00000493327.1",
"protein_id": null,
"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": 1509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.-80A>G",
"hgvs_p": null,
"transcript": "NM_001199708.2",
"protein_id": "NP_001186637.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": -4,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.-80A>G",
"hgvs_p": null,
"transcript": "ENST00000436884.5",
"protein_id": "ENSP00000389985.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": -4,
"cds_end": null,
"cds_length": 1254,
"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": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.-80A>G",
"hgvs_p": null,
"transcript": "XM_024446701.2",
"protein_id": "XP_024302469.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.-80A>G",
"hgvs_p": null,
"transcript": "XM_024446702.2",
"protein_id": "XP_024302470.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": -4,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
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"cdna_length": 4123,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.-13+9716A>G",
"hgvs_p": null,
"transcript": "NM_001300956.2",
"protein_id": "NP_001287885.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.-13+9716A>G",
"hgvs_p": null,
"transcript": "ENST00000453212.5",
"protein_id": "ENSP00000390183.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.179-204A>G",
"hgvs_p": null,
"transcript": "ENST00000429651.1",
"protein_id": "ENSP00000390527.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": -4,
"cds_end": null,
"cds_length": 425,
"cdna_start": null,
"cdna_end": 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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.-13+9521A>G",
"hgvs_p": null,
"transcript": "ENST00000431396.1",
"protein_id": "ENSP00000399935.1",
"transcript_support_level": 4,
"aa_start": null,
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"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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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "n.158+10805A>G",
"hgvs_p": null,
"transcript": "ENST00000480192.5",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "n.120+9716A>G",
"hgvs_p": null,
"transcript": "ENST00000483360.5",
"protein_id": null,
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"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "n.326+9521A>G",
"hgvs_p": null,
"transcript": "ENST00000483526.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 578,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"hgvs_c": "c.-13+9521A>G",
"hgvs_p": null,
"transcript": "XM_005249690.5",
"protein_id": "XP_005249747.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
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"cds_length": 828,
"cdna_start": null,
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"cdna_length": 3773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MATCAP2",
"gene_hgnc_id": 22206,
"dbsnp": "rs767576321",
"frequency_reference_population": 0.000029738523,
"hom_count_reference_population": 0,
"allele_count_reference_population": 48,
"gnomad_exomes_af": 0.0000287309,
"gnomad_genomes_af": 0.0000394146,
"gnomad_exomes_ac": 42,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04950493574142456,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.169,
"revel_prediction": "Benign",
"alphamissense_score": 0.1013,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.238,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001199706.2",
"gene_symbol": "MATCAP2",
"hgnc_id": 22206,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.221A>G",
"hgvs_p": "p.Gln74Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}