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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: 10-32845922-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=32845922&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 32845922,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000639629.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.3567A>G",
"hgvs_p": "p.Ile1189Met",
"transcript": "NM_001395015.1",
"protein_id": "NP_001381944.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3567,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 3876,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": "ENST00000639629.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.3567A>G",
"hgvs_p": "p.Ile1189Met",
"transcript": "ENST00000639629.2",
"protein_id": "ENSP00000491655.1",
"transcript_support_level": 5,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3567,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 3876,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": "NM_001395015.1",
"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": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "n.*1190A>G",
"hgvs_p": null,
"transcript": "ENST00000302316.12",
"protein_id": "ENSP00000303710.9",
"transcript_support_level": 1,
"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": 2129,
"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": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "n.1791A>G",
"hgvs_p": null,
"transcript": "ENST00000639290.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 2542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "n.*1190A>G",
"hgvs_p": null,
"transcript": "ENST00000302316.12",
"protein_id": "ENSP00000303710.9",
"transcript_support_level": 1,
"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": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.3567A>G",
"hgvs_p": "p.Ile1189Met",
"transcript": "NM_001321115.2",
"protein_id": "NP_001308044.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3567,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 4110,
"cdna_end": null,
"cdna_length": 5060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.1350A>G",
"hgvs_p": "p.Ile450Met",
"transcript": "ENST00000375028.9",
"protein_id": "ENSP00000364168.5",
"transcript_support_level": 2,
"aa_start": 450,
"aa_end": null,
"aa_length": 646,
"cds_start": 1350,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 1994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.3567A>G",
"hgvs_p": "p.Ile1189Met",
"transcript": "XM_047425742.1",
"protein_id": "XP_047281698.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3567,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 4646,
"cdna_end": null,
"cdna_length": 5596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.3567A>G",
"hgvs_p": "p.Ile1189Met",
"transcript": "XM_047425743.1",
"protein_id": "XP_047281699.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3567,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 3737,
"cdna_end": null,
"cdna_length": 4687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.3567A>G",
"hgvs_p": "p.Ile1189Met",
"transcript": "XM_011519664.1",
"protein_id": "XP_011517966.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1380,
"cds_start": 3567,
"cds_end": null,
"cds_length": 4143,
"cdna_start": 3876,
"cdna_end": null,
"cdna_length": 4460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.3546A>G",
"hgvs_p": "p.Ile1182Met",
"transcript": "XM_024448165.1",
"protein_id": "XP_024303933.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1378,
"cds_start": 3546,
"cds_end": null,
"cds_length": 4137,
"cdna_start": 3855,
"cdna_end": null,
"cdna_length": 4805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.3534A>G",
"hgvs_p": "p.Ile1178Met",
"transcript": "XM_024448166.1",
"protein_id": "XP_024303934.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3534,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 3843,
"cdna_end": null,
"cdna_length": 4793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.3522A>G",
"hgvs_p": "p.Ile1174Met",
"transcript": "XM_017016638.1",
"protein_id": "XP_016872127.1",
"transcript_support_level": null,
"aa_start": 1174,
"aa_end": null,
"aa_length": 1370,
"cds_start": 3522,
"cds_end": null,
"cds_length": 4113,
"cdna_start": 3831,
"cdna_end": null,
"cdna_length": 4781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.3483A>G",
"hgvs_p": "p.Ile1161Met",
"transcript": "XM_011519666.1",
"protein_id": "XP_011517968.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1357,
"cds_start": 3483,
"cds_end": null,
"cds_length": 4074,
"cdna_start": 3792,
"cdna_end": null,
"cdna_length": 4742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.3483A>G",
"hgvs_p": "p.Ile1161Met",
"transcript": "XM_011519667.1",
"protein_id": "XP_011517969.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1357,
"cds_start": 3483,
"cds_end": null,
"cds_length": 4074,
"cdna_start": 3792,
"cdna_end": null,
"cdna_length": 4742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.3477A>G",
"hgvs_p": "p.Ile1159Met",
"transcript": "XM_011519668.1",
"protein_id": "XP_011517970.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1355,
"cds_start": 3477,
"cds_end": null,
"cds_length": 4068,
"cdna_start": 3786,
"cdna_end": null,
"cdna_length": 4736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.3465A>G",
"hgvs_p": "p.Ile1155Met",
"transcript": "XM_011519669.1",
"protein_id": "XP_011517971.1",
"transcript_support_level": null,
"aa_start": 1155,
"aa_end": null,
"aa_length": 1351,
"cds_start": 3465,
"cds_end": null,
"cds_length": 4056,
"cdna_start": 3774,
"cdna_end": null,
"cdna_length": 4724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.3459A>G",
"hgvs_p": "p.Ile1153Met",
"transcript": "XM_011519670.1",
"protein_id": "XP_011517972.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1349,
"cds_start": 3459,
"cds_end": null,
"cds_length": 4050,
"cdna_start": 3768,
"cdna_end": null,
"cdna_length": 4718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.3459A>G",
"hgvs_p": "p.Ile1153Met",
"transcript": "XM_011519671.1",
"protein_id": "XP_011517973.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1349,
"cds_start": 3459,
"cds_end": null,
"cds_length": 4050,
"cdna_start": 3768,
"cdna_end": null,
"cdna_length": 4718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.3456A>G",
"hgvs_p": "p.Ile1152Met",
"transcript": "XM_011519672.1",
"protein_id": "XP_011517974.1",
"transcript_support_level": null,
"aa_start": 1152,
"aa_end": null,
"aa_length": 1348,
"cds_start": 3456,
"cds_end": null,
"cds_length": 4047,
"cdna_start": 3765,
"cdna_end": null,
"cdna_length": 4715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.3453A>G",
"hgvs_p": "p.Ile1151Met",
"transcript": "XM_011519673.1",
"protein_id": "XP_011517975.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1347,
"cds_start": 3453,
"cds_end": null,
"cds_length": 4044,
"cdna_start": 3762,
"cdna_end": null,
"cdna_length": 4712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.3399A>G",
"hgvs_p": "p.Ile1133Met",
"transcript": "XM_047425744.1",
"protein_id": "XP_047281700.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1329,
"cds_start": 3399,
"cds_end": null,
"cds_length": 3990,
"cdna_start": 3708,
"cdna_end": null,
"cdna_length": 4658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
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"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"dbsnp": "rs139269221",
"frequency_reference_population": 0.00002232608,
"hom_count_reference_population": 0,
"allele_count_reference_population": 36,
"gnomad_exomes_af": 0.0000109558,
"gnomad_genomes_af": 0.000131536,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0460965633392334,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.085,
"revel_prediction": "Benign",
"alphamissense_score": 0.2194,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.1,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000639629.2",
"gene_symbol": "CCDC7",
"hgnc_id": 26533,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.3567A>G",
"hgvs_p": "p.Ile1189Met"
}
],
"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
}