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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: X-101883631-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=101883631&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 101883631,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001394560.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1967A>G",
"hgvs_p": "p.Lys656Arg",
"transcript": "NM_001394560.1",
"protein_id": "NP_001381489.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 695,
"cds_start": 1967,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1986,
"cdna_end": null,
"cdna_length": 3327,
"mane_select": "ENST00000651725.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394560.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1967A>G",
"hgvs_p": "p.Lys656Arg",
"transcript": "ENST00000651725.2",
"protein_id": "ENSP00000498446.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 695,
"cds_start": 1967,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1986,
"cdna_end": null,
"cdna_length": 3327,
"mane_select": "NM_001394560.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651725.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1796A>G",
"hgvs_p": "p.Lys599Arg",
"transcript": "ENST00000372782.4",
"protein_id": "ENSP00000361868.3",
"transcript_support_level": 1,
"aa_start": 599,
"aa_end": null,
"aa_length": 638,
"cds_start": 1796,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372782.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.2036A>G",
"hgvs_p": "p.Lys679Arg",
"transcript": "ENST00000878190.1",
"protein_id": "ENSP00000548249.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 718,
"cds_start": 2036,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2118,
"cdna_end": null,
"cdna_length": 2392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878190.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.2033A>G",
"hgvs_p": "p.Lys678Arg",
"transcript": "ENST00000878189.1",
"protein_id": "ENSP00000548248.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 717,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 2052,
"cdna_end": null,
"cdna_length": 3391,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878189.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1979A>G",
"hgvs_p": "p.Lys660Arg",
"transcript": "ENST00000966029.1",
"protein_id": "ENSP00000636088.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 699,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2007,
"cdna_end": null,
"cdna_length": 3269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966029.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1796A>G",
"hgvs_p": "p.Lys599Arg",
"transcript": "NM_001011657.4",
"protein_id": "NP_001011657.2",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 638,
"cds_start": 1796,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2107,
"cdna_end": null,
"cdna_length": 3448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001011657.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1796A>G",
"hgvs_p": "p.Lys599Arg",
"transcript": "ENST00000540921.5",
"protein_id": "ENSP00000437529.1",
"transcript_support_level": 2,
"aa_start": 599,
"aa_end": null,
"aa_length": 638,
"cds_start": 1796,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1796,
"cdna_end": null,
"cdna_length": 3139,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540921.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1283A>G",
"hgvs_p": "p.Lys428Arg",
"transcript": "NM_001282400.2",
"protein_id": "NP_001269329.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 467,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 2663,
"cdna_end": null,
"cdna_length": 4004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282400.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1283A>G",
"hgvs_p": "p.Lys428Arg",
"transcript": "NM_001282401.2",
"protein_id": "NP_001269330.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 467,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 2610,
"cdna_end": null,
"cdna_length": 3951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282401.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.2036A>G",
"hgvs_p": "p.Lys679Arg",
"transcript": "XM_005262212.5",
"protein_id": "XP_005262269.2",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 718,
"cds_start": 2036,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2055,
"cdna_end": null,
"cdna_length": 3396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262212.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.2033A>G",
"hgvs_p": "p.Lys678Arg",
"transcript": "XM_005262213.5",
"protein_id": "XP_005262270.2",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 717,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 2052,
"cdna_end": null,
"cdna_length": 3393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262213.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1676A>G",
"hgvs_p": "p.Lys559Arg",
"transcript": "XM_005262216.5",
"protein_id": "XP_005262273.2",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 598,
"cds_start": 1676,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1865,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262216.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1673A>G",
"hgvs_p": "p.Lys558Arg",
"transcript": "XM_017029903.2",
"protein_id": "XP_016885392.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 597,
"cds_start": 1673,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029903.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1283A>G",
"hgvs_p": "p.Lys428Arg",
"transcript": "XM_006724711.4",
"protein_id": "XP_006724774.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 467,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1618,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724711.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1283A>G",
"hgvs_p": "p.Lys428Arg",
"transcript": "XM_047442574.1",
"protein_id": "XP_047298530.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 467,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 9901,
"cdna_end": null,
"cdna_length": 11242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442574.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1283A>G",
"hgvs_p": "p.Lys428Arg",
"transcript": "XM_047442575.1",
"protein_id": "XP_047298531.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 467,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 3940,
"cdna_end": null,
"cdna_length": 5281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442575.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1283A>G",
"hgvs_p": "p.Lys428Arg",
"transcript": "XM_047442576.1",
"protein_id": "XP_047298532.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 467,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 3367,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442576.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "n.2614A>G",
"hgvs_p": null,
"transcript": "ENST00000458570.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000458570.5"
},
{
"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": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "n.4781A>G",
"hgvs_p": null,
"transcript": "ENST00000494068.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5754,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000494068.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "n.*9A>G",
"hgvs_p": null,
"transcript": "ENST00000488347.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000488347.5"
}
],
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"dbsnp": "rs1212358960",
"frequency_reference_population": 0.0000057972165,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000546912,
"gnomad_genomes_af": 0.0000090574,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09716421365737915,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.049,
"revel_prediction": "Benign",
"alphamissense_score": 0.0901,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.217,
"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": "NM_001394560.1",
"gene_symbol": "ZMAT1",
"hgnc_id": 29377,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1967A>G",
"hgvs_p": "p.Lys656Arg"
}
],
"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
}