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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: 7-100676569-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100676569&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100676569,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005273.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.92C>G",
"hgvs_p": "p.Thr31Ser",
"transcript": "NM_005273.4",
"protein_id": "NP_005264.2",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 340,
"cds_start": 92,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000303210.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005273.4"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.92C>G",
"hgvs_p": "p.Thr31Ser",
"transcript": "ENST00000303210.9",
"protein_id": "ENSP00000305260.4",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 340,
"cds_start": 92,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005273.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303210.9"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.92C>G",
"hgvs_p": "p.Thr31Ser",
"transcript": "ENST00000393924.1",
"protein_id": "ENSP00000377501.1",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 340,
"cds_start": 92,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393924.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.92C>G",
"hgvs_p": "p.Thr31Ser",
"transcript": "ENST00000879679.1",
"protein_id": "ENSP00000549738.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 344,
"cds_start": 92,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879679.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.92C>G",
"hgvs_p": "p.Thr31Ser",
"transcript": "ENST00000879684.1",
"protein_id": "ENSP00000549743.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 344,
"cds_start": 92,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879684.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.92C>G",
"hgvs_p": "p.Thr31Ser",
"transcript": "ENST00000393926.5",
"protein_id": "ENSP00000377503.1",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 340,
"cds_start": 92,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393926.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.92C>G",
"hgvs_p": "p.Thr31Ser",
"transcript": "ENST00000879678.1",
"protein_id": "ENSP00000549737.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 340,
"cds_start": 92,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879678.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.92C>G",
"hgvs_p": "p.Thr31Ser",
"transcript": "ENST00000879680.1",
"protein_id": "ENSP00000549739.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 340,
"cds_start": 92,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879680.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.92C>G",
"hgvs_p": "p.Thr31Ser",
"transcript": "ENST00000879682.1",
"protein_id": "ENSP00000549741.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 340,
"cds_start": 92,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879682.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.92C>G",
"hgvs_p": "p.Thr31Ser",
"transcript": "ENST00000879683.1",
"protein_id": "ENSP00000549742.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 340,
"cds_start": 92,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879683.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.92C>G",
"hgvs_p": "p.Thr31Ser",
"transcript": "ENST00000922250.1",
"protein_id": "ENSP00000592309.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 340,
"cds_start": 92,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922250.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.92C>G",
"hgvs_p": "p.Thr31Ser",
"transcript": "ENST00000966217.1",
"protein_id": "ENSP00000636276.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 340,
"cds_start": 92,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966217.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.92C>G",
"hgvs_p": "p.Thr31Ser",
"transcript": "ENST00000879681.1",
"protein_id": "ENSP00000549740.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 339,
"cds_start": 92,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879681.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.92C>G",
"hgvs_p": "p.Thr31Ser",
"transcript": "ENST00000922249.1",
"protein_id": "ENSP00000592308.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 338,
"cds_start": 92,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922249.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.92C>G",
"hgvs_p": "p.Thr31Ser",
"transcript": "ENST00000451587.5",
"protein_id": "ENSP00000399904.1",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 250,
"cds_start": 92,
"cds_end": null,
"cds_length": 754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451587.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.92C>G",
"hgvs_p": "p.Thr31Ser",
"transcript": "ENST00000431068.5",
"protein_id": "ENSP00000390077.1",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 231,
"cds_start": 92,
"cds_end": null,
"cds_length": 697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431068.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.92C>G",
"hgvs_p": "p.Thr31Ser",
"transcript": "ENST00000412215.5",
"protein_id": "ENSP00000413219.1",
"transcript_support_level": 4,
"aa_start": 31,
"aa_end": null,
"aa_length": 151,
"cds_start": 92,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412215.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.-41C>G",
"hgvs_p": null,
"transcript": "ENST00000424361.5",
"protein_id": "ENSP00000389391.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": null,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424361.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.-41C>G",
"hgvs_p": null,
"transcript": "ENST00000436220.5",
"protein_id": "ENSP00000401873.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": null,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436220.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.-97-783C>G",
"hgvs_p": null,
"transcript": "ENST00000419828.5",
"protein_id": "ENSP00000390543.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419828.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.-33-929C>G",
"hgvs_p": null,
"transcript": "ENST00000427895.5",
"protein_id": "ENSP00000400286.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427895.5"
},
{
"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": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "n.135C>G",
"hgvs_p": null,
"transcript": "ENST00000480159.1",
"protein_id": null,
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000480159.1"
}
],
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"dbsnp": "rs1324648019",
"frequency_reference_population": 6.859529e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85953e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12190178036689758,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.0609,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.176,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 2,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005273.4",
"gene_symbol": "GNB2",
"hgnc_id": 4398,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.92C>G",
"hgvs_p": "p.Thr31Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}