← Back to variant description
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: 2-219484160-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219484160&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219484160,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000312358.12",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.6697C>A",
"hgvs_p": "p.Gln2233Lys",
"transcript": "NM_005876.5",
"protein_id": "NP_005867.3",
"transcript_support_level": null,
"aa_start": 2233,
"aa_end": null,
"aa_length": 3267,
"cds_start": 6697,
"cds_end": null,
"cds_length": 9804,
"cdna_start": 6832,
"cdna_end": null,
"cdna_length": 10782,
"mane_select": "ENST00000312358.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.6697C>A",
"hgvs_p": "p.Gln2233Lys",
"transcript": "ENST00000312358.12",
"protein_id": "ENSP00000311684.7",
"transcript_support_level": 5,
"aa_start": 2233,
"aa_end": null,
"aa_length": 3267,
"cds_start": 6697,
"cds_end": null,
"cds_length": 9804,
"cdna_start": 6832,
"cdna_end": null,
"cdna_length": 10782,
"mane_select": "NM_005876.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.6727C>A",
"hgvs_p": "p.Gln2243Lys",
"transcript": "XM_011510479.3",
"protein_id": "XP_011508781.1",
"transcript_support_level": null,
"aa_start": 2243,
"aa_end": null,
"aa_length": 3277,
"cds_start": 6727,
"cds_end": null,
"cds_length": 9834,
"cdna_start": 6862,
"cdna_end": null,
"cdna_length": 10812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.6727C>A",
"hgvs_p": "p.Gln2243Lys",
"transcript": "XM_047442891.1",
"protein_id": "XP_047298847.1",
"transcript_support_level": null,
"aa_start": 2243,
"aa_end": null,
"aa_length": 3269,
"cds_start": 6727,
"cds_end": null,
"cds_length": 9810,
"cdna_start": 6862,
"cdna_end": null,
"cdna_length": 10840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.6550C>A",
"hgvs_p": "p.Gln2184Lys",
"transcript": "XM_047442892.1",
"protein_id": "XP_047298848.1",
"transcript_support_level": null,
"aa_start": 2184,
"aa_end": null,
"aa_length": 3218,
"cds_start": 6550,
"cds_end": null,
"cds_length": 9657,
"cdna_start": 6685,
"cdna_end": null,
"cdna_length": 10635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.6544C>A",
"hgvs_p": "p.Gln2182Lys",
"transcript": "XM_047442893.1",
"protein_id": "XP_047298849.1",
"transcript_support_level": null,
"aa_start": 2182,
"aa_end": null,
"aa_length": 3216,
"cds_start": 6544,
"cds_end": null,
"cds_length": 9651,
"cdna_start": 6679,
"cdna_end": null,
"cdna_length": 10629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.6520C>A",
"hgvs_p": "p.Gln2174Lys",
"transcript": "XM_047442894.1",
"protein_id": "XP_047298850.1",
"transcript_support_level": null,
"aa_start": 2174,
"aa_end": null,
"aa_length": 3208,
"cds_start": 6520,
"cds_end": null,
"cds_length": 9627,
"cdna_start": 6655,
"cdna_end": null,
"cdna_length": 10605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.6415C>A",
"hgvs_p": "p.Gln2139Lys",
"transcript": "XM_005246237.3",
"protein_id": "XP_005246294.1",
"transcript_support_level": null,
"aa_start": 2139,
"aa_end": null,
"aa_length": 3173,
"cds_start": 6415,
"cds_end": null,
"cds_length": 9522,
"cdna_start": 6423,
"cdna_end": null,
"cdna_length": 10373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.6385C>A",
"hgvs_p": "p.Gln2129Lys",
"transcript": "XM_006712189.4",
"protein_id": "XP_006712252.1",
"transcript_support_level": null,
"aa_start": 2129,
"aa_end": null,
"aa_length": 3163,
"cds_start": 6385,
"cds_end": null,
"cds_length": 9492,
"cdna_start": 6393,
"cdna_end": null,
"cdna_length": 10343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.6337C>A",
"hgvs_p": "p.Gln2113Lys",
"transcript": "XM_047442895.1",
"protein_id": "XP_047298851.1",
"transcript_support_level": null,
"aa_start": 2113,
"aa_end": null,
"aa_length": 3147,
"cds_start": 6337,
"cds_end": null,
"cds_length": 9444,
"cdna_start": 6472,
"cdna_end": null,
"cdna_length": 10422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.6238C>A",
"hgvs_p": "p.Gln2080Lys",
"transcript": "XM_047442896.1",
"protein_id": "XP_047298852.1",
"transcript_support_level": null,
"aa_start": 2080,
"aa_end": null,
"aa_length": 3114,
"cds_start": 6238,
"cds_end": null,
"cds_length": 9345,
"cdna_start": 6246,
"cdna_end": null,
"cdna_length": 10196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.6208C>A",
"hgvs_p": "p.Gln2070Lys",
"transcript": "XM_047442897.1",
"protein_id": "XP_047298853.1",
"transcript_support_level": null,
"aa_start": 2070,
"aa_end": null,
"aa_length": 3104,
"cds_start": 6208,
"cds_end": null,
"cds_length": 9315,
"cdna_start": 6216,
"cdna_end": null,
"cdna_length": 10166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.6727C>A",
"hgvs_p": "p.Gln2243Lys",
"transcript": "XM_017003159.3",
"protein_id": "XP_016858648.2",
"transcript_support_level": null,
"aa_start": 2243,
"aa_end": null,
"aa_length": 2632,
"cds_start": 6727,
"cds_end": null,
"cds_length": 7899,
"cdna_start": 6862,
"cdna_end": null,
"cdna_length": 9250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.4336C>A",
"hgvs_p": "p.Gln1446Lys",
"transcript": "XM_005246242.5",
"protein_id": "XP_005246299.1",
"transcript_support_level": null,
"aa_start": 1446,
"aa_end": null,
"aa_length": 2480,
"cds_start": 4336,
"cds_end": null,
"cds_length": 7443,
"cdna_start": 4365,
"cdna_end": null,
"cdna_length": 8315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.4321C>A",
"hgvs_p": "p.Gln1441Lys",
"transcript": "XM_005246239.3",
"protein_id": "XP_005246296.1",
"transcript_support_level": null,
"aa_start": 1441,
"aa_end": null,
"aa_length": 2475,
"cds_start": 4321,
"cds_end": null,
"cds_length": 7428,
"cdna_start": 6251,
"cdna_end": null,
"cdna_length": 10201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.4321C>A",
"hgvs_p": "p.Gln1441Lys",
"transcript": "XM_047442898.1",
"protein_id": "XP_047298854.1",
"transcript_support_level": null,
"aa_start": 1441,
"aa_end": null,
"aa_length": 2475,
"cds_start": 4321,
"cds_end": null,
"cds_length": 7428,
"cdna_start": 6371,
"cdna_end": null,
"cdna_length": 10321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.4321C>A",
"hgvs_p": "p.Gln1441Lys",
"transcript": "XM_047442900.1",
"protein_id": "XP_047298856.1",
"transcript_support_level": null,
"aa_start": 1441,
"aa_end": null,
"aa_length": 2475,
"cds_start": 4321,
"cds_end": null,
"cds_length": 7428,
"cdna_start": 4937,
"cdna_end": null,
"cdna_length": 8887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.4150C>A",
"hgvs_p": "p.Gln1384Lys",
"transcript": "XM_005246240.2",
"protein_id": "XP_005246297.1",
"transcript_support_level": null,
"aa_start": 1384,
"aa_end": null,
"aa_length": 2418,
"cds_start": 4150,
"cds_end": null,
"cds_length": 7257,
"cdna_start": 4442,
"cdna_end": null,
"cdna_length": 8392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.4150C>A",
"hgvs_p": "p.Gln1384Lys",
"transcript": "XM_005246241.2",
"protein_id": "XP_005246298.1",
"transcript_support_level": null,
"aa_start": 1384,
"aa_end": null,
"aa_length": 2418,
"cds_start": 4150,
"cds_end": null,
"cds_length": 7257,
"cdna_start": 4464,
"cdna_end": null,
"cdna_length": 8414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.4150C>A",
"hgvs_p": "p.Gln1384Lys",
"transcript": "XM_006712193.4",
"protein_id": "XP_006712256.1",
"transcript_support_level": null,
"aa_start": 1384,
"aa_end": null,
"aa_length": 2418,
"cds_start": 4150,
"cds_end": null,
"cds_length": 7257,
"cdna_start": 4371,
"cdna_end": null,
"cdna_length": 8321,
"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": 28,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "n.5940C>A",
"hgvs_p": null,
"transcript": "ENST00000485813.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 9854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ASIC4-AS1",
"gene_hgnc_id": 40960,
"hgvs_c": "n.183-1751G>T",
"hgvs_p": null,
"transcript": "ENST00000429882.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ASIC4-AS1",
"gene_hgnc_id": 40960,
"hgvs_c": "n.392-1751G>T",
"hgvs_p": null,
"transcript": "XR_923921.2",
"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": 1069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"dbsnp": "rs587777672",
"frequency_reference_population": 0.000012394584,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000116327,
"gnomad_genomes_af": 0.0000197099,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07558473944664001,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.028,
"revel_prediction": "Benign",
"alphamissense_score": 0.0763,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.865,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000312358.12",
"gene_symbol": "SPEG",
"hgnc_id": 16901,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6697C>A",
"hgvs_p": "p.Gln2233Lys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000429882.1",
"gene_symbol": "ASIC4-AS1",
"hgnc_id": 40960,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.183-1751G>T",
"hgvs_p": null
}
],
"clinvar_disease": " 5, centronuclear,Myopathy,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Myopathy, centronuclear, 5|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}