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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: 6-2833981-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=2833981&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 2833981,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_030666.4",
"consequences": [
{
"aa_ref": "H",
"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": "SERPINB1",
"gene_hgnc_id": 3311,
"hgvs_c": "c.767A>G",
"hgvs_p": "p.His256Arg",
"transcript": "NM_030666.4",
"protein_id": "NP_109591.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 379,
"cds_start": 767,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": "ENST00000380739.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030666.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"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": "SERPINB1",
"gene_hgnc_id": 3311,
"hgvs_c": "c.767A>G",
"hgvs_p": "p.His256Arg",
"transcript": "ENST00000380739.6",
"protein_id": "ENSP00000370115.5",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 379,
"cds_start": 767,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": "NM_030666.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380739.6"
},
{
"aa_ref": "H",
"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": "SERPINB1",
"gene_hgnc_id": 3311,
"hgvs_c": "c.767A>G",
"hgvs_p": "p.His256Arg",
"transcript": "ENST00000878907.1",
"protein_id": "ENSP00000548966.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 379,
"cds_start": 767,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 2044,
"cdna_end": null,
"cdna_length": 3693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878907.1"
},
{
"aa_ref": "H",
"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": "SERPINB1",
"gene_hgnc_id": 3311,
"hgvs_c": "c.767A>G",
"hgvs_p": "p.His256Arg",
"transcript": "ENST00000878908.1",
"protein_id": "ENSP00000548967.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 379,
"cds_start": 767,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878908.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB1",
"gene_hgnc_id": 3311,
"hgvs_c": "c.767A>G",
"hgvs_p": "p.His256Arg",
"transcript": "ENST00000878910.1",
"protein_id": "ENSP00000548969.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 379,
"cds_start": 767,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 2180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878910.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB1",
"gene_hgnc_id": 3311,
"hgvs_c": "c.767A>G",
"hgvs_p": "p.His256Arg",
"transcript": "ENST00000878911.1",
"protein_id": "ENSP00000548970.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 379,
"cds_start": 767,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 1569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878911.1"
},
{
"aa_ref": "H",
"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": "SERPINB1",
"gene_hgnc_id": 3311,
"hgvs_c": "c.767A>G",
"hgvs_p": "p.His256Arg",
"transcript": "ENST00000878912.1",
"protein_id": "ENSP00000548971.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 379,
"cds_start": 767,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878912.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB1",
"gene_hgnc_id": 3311,
"hgvs_c": "c.767A>G",
"hgvs_p": "p.His256Arg",
"transcript": "ENST00000878913.1",
"protein_id": "ENSP00000548972.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 379,
"cds_start": 767,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 1567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878913.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB1",
"gene_hgnc_id": 3311,
"hgvs_c": "c.767A>G",
"hgvs_p": "p.His256Arg",
"transcript": "ENST00000878914.1",
"protein_id": "ENSP00000548973.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 379,
"cds_start": 767,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878914.1"
},
{
"aa_ref": "H",
"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": "SERPINB1",
"gene_hgnc_id": 3311,
"hgvs_c": "c.767A>G",
"hgvs_p": "p.His256Arg",
"transcript": "ENST00000915893.1",
"protein_id": "ENSP00000585952.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 379,
"cds_start": 767,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915893.1"
},
{
"aa_ref": "H",
"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": "SERPINB1",
"gene_hgnc_id": 3311,
"hgvs_c": "c.767A>G",
"hgvs_p": "p.His256Arg",
"transcript": "ENST00000952270.1",
"protein_id": "ENSP00000622329.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 379,
"cds_start": 767,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952270.1"
},
{
"aa_ref": "H",
"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": "SERPINB1",
"gene_hgnc_id": 3311,
"hgvs_c": "c.746A>G",
"hgvs_p": "p.His249Arg",
"transcript": "ENST00000878906.1",
"protein_id": "ENSP00000548965.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 372,
"cds_start": 746,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 2564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878906.1"
},
{
"aa_ref": "H",
"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": "SERPINB1",
"gene_hgnc_id": 3311,
"hgvs_c": "c.746A>G",
"hgvs_p": "p.His249Arg",
"transcript": "ENST00000952269.1",
"protein_id": "ENSP00000622328.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 372,
"cds_start": 746,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 2610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952269.1"
},
{
"aa_ref": "H",
"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": "SERPINB1",
"gene_hgnc_id": 3311,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.His245Arg",
"transcript": "ENST00000878915.1",
"protein_id": "ENSP00000548974.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 368,
"cds_start": 734,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 1273,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878915.1"
},
{
"aa_ref": "H",
"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": "SERPINB1",
"gene_hgnc_id": 3311,
"hgvs_c": "c.629A>G",
"hgvs_p": "p.His210Arg",
"transcript": "ENST00000878909.1",
"protein_id": "ENSP00000548968.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 333,
"cds_start": 629,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 1647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878909.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB1",
"gene_hgnc_id": 3311,
"hgvs_c": "c.767A>G",
"hgvs_p": "p.His256Arg",
"transcript": "XM_011514333.2",
"protein_id": "XP_011512635.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 379,
"cds_start": 767,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 2736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514333.2"
},
{
"aa_ref": "H",
"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": "SERPINB1",
"gene_hgnc_id": 3311,
"hgvs_c": "c.767A>G",
"hgvs_p": "p.His256Arg",
"transcript": "XM_011514334.3",
"protein_id": "XP_011512636.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 379,
"cds_start": 767,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514334.3"
},
{
"aa_ref": "H",
"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": "SERPINB1",
"gene_hgnc_id": 3311,
"hgvs_c": "c.620A>G",
"hgvs_p": "p.His207Arg",
"transcript": "XM_011514335.3",
"protein_id": "XP_011512637.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 330,
"cds_start": 620,
"cds_end": null,
"cds_length": 993,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 2546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514335.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB1",
"gene_hgnc_id": 3311,
"hgvs_c": "c.620A>G",
"hgvs_p": "p.His207Arg",
"transcript": "XM_047418269.1",
"protein_id": "XP_047274225.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 330,
"cds_start": 620,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 2806,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418269.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB1",
"gene_hgnc_id": 3311,
"hgvs_c": "n.959A>G",
"hgvs_p": null,
"transcript": "NR_073111.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_073111.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB1",
"gene_hgnc_id": 3311,
"hgvs_c": "n.823A>G",
"hgvs_p": null,
"transcript": "NR_073112.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_073112.2"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SERPINB1",
"gene_hgnc_id": 3311,
"hgvs_c": "n.262-282A>G",
"hgvs_p": null,
"transcript": "ENST00000468511.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 449,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000468511.5"
}
],
"gene_symbol": "SERPINB1",
"gene_hgnc_id": 3311,
"dbsnp": "rs997623076",
"frequency_reference_population": 0.0000055116234,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000551162,
"gnomad_genomes_af": 0.00000657203,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.031621575355529785,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.217,
"revel_prediction": "Benign",
"alphamissense_score": 0.058,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.755,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_030666.4",
"gene_symbol": "SERPINB1",
"hgnc_id": 3311,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.767A>G",
"hgvs_p": "p.His256Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}