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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: 10-30439041-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=30439041&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MAP3K8",
"hgnc_id": 6860,
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Ala35Ser",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_005204.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.0744,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.026165038347244263,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 467,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2850,
"cdna_start": 552,
"cds_end": null,
"cds_length": 1404,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_005204.4",
"gene_hgnc_id": 6860,
"gene_symbol": "MAP3K8",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Ala35Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263056.6",
"protein_coding": true,
"protein_id": "NP_005195.2",
"strand": true,
"transcript": "NM_005204.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 467,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2850,
"cdna_start": 552,
"cds_end": null,
"cds_length": 1404,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000263056.6",
"gene_hgnc_id": 6860,
"gene_symbol": "MAP3K8",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Ala35Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005204.4",
"protein_coding": true,
"protein_id": "ENSP00000263056.1",
"strand": true,
"transcript": "ENST00000263056.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 467,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2518,
"cdna_start": 220,
"cds_end": null,
"cds_length": 1404,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000375321.1",
"gene_hgnc_id": 6860,
"gene_symbol": "MAP3K8",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Ala35Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364470.1",
"strand": true,
"transcript": "ENST00000375321.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 467,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2782,
"cdna_start": 484,
"cds_end": null,
"cds_length": 1404,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000542547.5",
"gene_hgnc_id": 6860,
"gene_symbol": "MAP3K8",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Ala35Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443610.1",
"strand": true,
"transcript": "ENST00000542547.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 489,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": 353,
"cds_end": null,
"cds_length": 1470,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000919547.1",
"gene_hgnc_id": 6860,
"gene_symbol": "MAP3K8",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Ala35Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589606.1",
"strand": true,
"transcript": "ENST00000919547.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 489,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2914,
"cdna_start": 594,
"cds_end": null,
"cds_length": 1470,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000971342.1",
"gene_hgnc_id": 6860,
"gene_symbol": "MAP3K8",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Ala35Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641401.1",
"strand": true,
"transcript": "ENST00000971342.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 489,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2581,
"cdna_start": 223,
"cds_end": null,
"cds_length": 1470,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000971343.1",
"gene_hgnc_id": 6860,
"gene_symbol": "MAP3K8",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Ala35Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641402.1",
"strand": true,
"transcript": "ENST00000971343.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 489,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": 384,
"cds_end": null,
"cds_length": 1470,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000971346.1",
"gene_hgnc_id": 6860,
"gene_symbol": "MAP3K8",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Ala35Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641405.1",
"strand": true,
"transcript": "ENST00000971346.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 467,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2782,
"cdna_start": 484,
"cds_end": null,
"cds_length": 1404,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001244134.1",
"gene_hgnc_id": 6860,
"gene_symbol": "MAP3K8",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Ala35Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001231063.1",
"strand": true,
"transcript": "NM_001244134.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 467,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2527,
"cdna_start": 229,
"cds_end": null,
"cds_length": 1404,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001320961.2",
"gene_hgnc_id": 6860,
"gene_symbol": "MAP3K8",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Ala35Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307890.1",
"strand": true,
"transcript": "NM_001320961.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 467,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3628,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 1404,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000897693.1",
"gene_hgnc_id": 6860,
"gene_symbol": "MAP3K8",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Ala35Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567752.1",
"strand": true,
"transcript": "ENST00000897693.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 467,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3351,
"cdna_start": 1055,
"cds_end": null,
"cds_length": 1404,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000897694.1",
"gene_hgnc_id": 6860,
"gene_symbol": "MAP3K8",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Ala35Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567753.1",
"strand": true,
"transcript": "ENST00000897694.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 467,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3560,
"cdna_start": 1269,
"cds_end": null,
"cds_length": 1404,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000897695.1",
"gene_hgnc_id": 6860,
"gene_symbol": "MAP3K8",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Ala35Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567754.1",
"strand": true,
"transcript": "ENST00000897695.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 467,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2891,
"cdna_start": 593,
"cds_end": null,
"cds_length": 1404,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000919546.1",
"gene_hgnc_id": 6860,
"gene_symbol": "MAP3K8",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Ala35Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589605.1",
"strand": true,
"transcript": "ENST00000919546.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 467,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3652,
"cdna_start": 1357,
"cds_end": null,
"cds_length": 1404,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000971341.1",
"gene_hgnc_id": 6860,
"gene_symbol": "MAP3K8",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Ala35Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641400.1",
"strand": true,
"transcript": "ENST00000971341.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 467,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2585,
"cdna_start": 288,
"cds_end": null,
"cds_length": 1404,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000971344.1",
"gene_hgnc_id": 6860,
"gene_symbol": "MAP3K8",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Ala35Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641403.1",
"strand": true,
"transcript": "ENST00000971344.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 411,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2311,
"cdna_start": 229,
"cds_end": null,
"cds_length": 1236,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000971345.1",
"gene_hgnc_id": 6860,
"gene_symbol": "MAP3K8",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Ala35Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641404.1",
"strand": true,
"transcript": "ENST00000971345.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 254,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1026,
"cdna_start": 364,
"cds_end": null,
"cds_length": 765,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000415139.5",
"gene_hgnc_id": 6860,
"gene_symbol": "MAP3K8",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Ala35Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409653.1",
"strand": true,
"transcript": "ENST00000415139.5",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 222,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 776,
"cdna_start": 210,
"cds_end": null,
"cds_length": 669,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000413724.5",
"gene_hgnc_id": 6860,
"gene_symbol": "MAP3K8",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Ala35Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391275.1",
"strand": true,
"transcript": "ENST00000413724.5",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 132,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 932,
"cdna_start": 492,
"cds_end": null,
"cds_length": 399,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000375322.2",
"gene_hgnc_id": 6860,
"gene_symbol": "MAP3K8",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Ala35Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364471.1",
"strand": true,
"transcript": "ENST00000375322.2",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 467,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2986,
"cdna_start": 688,
"cds_end": null,
"cds_length": 1404,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017015709.3",
"gene_hgnc_id": 6860,
"gene_symbol": "MAP3K8",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Ala35Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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"protein_id": "XP_016871198.1",
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}