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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: 8-98030578-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=98030578&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MATN2",
"hgnc_id": 6908,
"hgvs_c": "c.2473G>A",
"hgvs_p": "p.Glu825Lys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_002380.5",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RPL30",
"hgnc_id": 10333,
"hgvs_c": "n.241-4840C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "ENST00000518164.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 188,
"alphamissense_prediction": null,
"alphamissense_score": 0.0662,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"chr": "8",
"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": 0.11412164568901062,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 956,
"aa_ref": "E",
"aa_start": 825,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4133,
"cdna_start": 2723,
"cds_end": null,
"cds_length": 2871,
"cds_start": 2473,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_002380.5",
"gene_hgnc_id": 6908,
"gene_symbol": "MATN2",
"hgvs_c": "c.2473G>A",
"hgvs_p": "p.Glu825Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000254898.7",
"protein_coding": true,
"protein_id": "NP_002371.3",
"strand": true,
"transcript": "NM_002380.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 956,
"aa_ref": "E",
"aa_start": 825,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4133,
"cdna_start": 2723,
"cds_end": null,
"cds_length": 2871,
"cds_start": 2473,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000254898.7",
"gene_hgnc_id": 6908,
"gene_symbol": "MATN2",
"hgvs_c": "c.2473G>A",
"hgvs_p": "p.Glu825Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002380.5",
"protein_coding": true,
"protein_id": "ENSP00000254898.6",
"strand": true,
"transcript": "ENST00000254898.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 956,
"aa_ref": "E",
"aa_start": 825,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3495,
"cdna_start": 2597,
"cds_end": null,
"cds_length": 2871,
"cds_start": 2473,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000520016.5",
"gene_hgnc_id": 6908,
"gene_symbol": "MATN2",
"hgvs_c": "c.2473G>A",
"hgvs_p": "p.Glu825Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430487.1",
"strand": true,
"transcript": "ENST00000520016.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 937,
"aa_ref": "E",
"aa_start": 825,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3554,
"cdna_start": 2947,
"cds_end": null,
"cds_length": 2814,
"cds_start": 2473,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000521689.5",
"gene_hgnc_id": 6908,
"gene_symbol": "MATN2",
"hgvs_c": "c.2473G>A",
"hgvs_p": "p.Glu825Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429977.1",
"strand": true,
"transcript": "ENST00000521689.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 915,
"aa_ref": "E",
"aa_start": 784,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3449,
"cdna_start": 2553,
"cds_end": null,
"cds_length": 2748,
"cds_start": 2350,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000524308.5",
"gene_hgnc_id": 6908,
"gene_symbol": "MATN2",
"hgvs_c": "c.2350G>A",
"hgvs_p": "p.Glu784Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430221.1",
"strand": true,
"transcript": "ENST00000524308.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 719,
"aa_ref": "E",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 1820,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1819,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000518154.5",
"gene_hgnc_id": 6908,
"gene_symbol": "MATN2",
"hgvs_c": "c.1819G>A",
"hgvs_p": "p.Glu607Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429622.1",
"strand": true,
"transcript": "ENST00000518154.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 672,
"aa_ref": "E",
"aa_start": 541,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2731,
"cdna_start": 1831,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1621,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000522025.6",
"gene_hgnc_id": 6908,
"gene_symbol": "MATN2",
"hgvs_c": "c.1621G>A",
"hgvs_p": "p.Glu541Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429010.1",
"strand": true,
"transcript": "ENST00000522025.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 997,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000521952.5",
"gene_hgnc_id": 6908,
"gene_symbol": "MATN2",
"hgvs_c": "n.*141G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000429256.1",
"strand": true,
"transcript": "ENST00000521952.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 997,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000521952.5",
"gene_hgnc_id": 6908,
"gene_symbol": "MATN2",
"hgvs_c": "n.*141G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000429256.1",
"strand": true,
"transcript": "ENST00000521952.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1128,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000518164.5",
"gene_hgnc_id": 10333,
"gene_symbol": "RPL30",
"hgvs_c": "n.241-4840C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000518164.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "E",
"aa_start": 913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3846,
"cdna_start": 2942,
"cds_end": null,
"cds_length": 3135,
"cds_start": 2737,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000945057.1",
"gene_hgnc_id": 6908,
"gene_symbol": "MATN2",
"hgvs_c": "c.2737G>A",
"hgvs_p": "p.Glu913Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615116.1",
"strand": true,
"transcript": "ENST00000945057.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1025,
"aa_ref": "E",
"aa_start": 913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3812,
"cdna_start": 2973,
"cds_end": null,
"cds_length": 3078,
"cds_start": 2737,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000945049.1",
"gene_hgnc_id": 6908,
"gene_symbol": "MATN2",
"hgvs_c": "c.2737G>A",
"hgvs_p": "p.Glu913Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615108.1",
"strand": true,
"transcript": "ENST00000945049.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 967,
"aa_ref": "E",
"aa_start": 825,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3641,
"cdna_start": 2705,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2473,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000896681.1",
"gene_hgnc_id": 6908,
"gene_symbol": "MATN2",
"hgvs_c": "c.2473G>A",
"hgvs_p": "p.Glu825Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566740.1",
"strand": true,
"transcript": "ENST00000896681.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 956,
"aa_ref": "E",
"aa_start": 825,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3942,
"cdna_start": 3046,
"cds_end": null,
"cds_length": 2871,
"cds_start": 2473,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000945056.1",
"gene_hgnc_id": 6908,
"gene_symbol": "MATN2",
"hgvs_c": "c.2473G>A",
"hgvs_p": "p.Glu825Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615115.1",
"strand": true,
"transcript": "ENST00000945056.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 937,
"aa_ref": "E",
"aa_start": 825,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4076,
"cdna_start": 2723,
"cds_end": null,
"cds_length": 2814,
"cds_start": 2473,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_030583.4",
"gene_hgnc_id": 6908,
"gene_symbol": "MATN2",
"hgvs_c": "c.2473G>A",
"hgvs_p": "p.Glu825Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_085072.2",
"strand": true,
"transcript": "NM_030583.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 932,
"aa_ref": "E",
"aa_start": 825,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3550,
"cdna_start": 2717,
"cds_end": null,
"cds_length": 2799,
"cds_start": 2473,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000896679.1",
"gene_hgnc_id": 6908,
"gene_symbol": "MATN2",
"hgvs_c": "c.2473G>A",
"hgvs_p": "p.Glu825Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566738.1",
"strand": true,
"transcript": "ENST00000896679.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 915,
"aa_ref": "E",
"aa_start": 784,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4010,
"cdna_start": 2600,
"cds_end": null,
"cds_length": 2748,
"cds_start": 2350,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001317748.2",
"gene_hgnc_id": 6908,
"gene_symbol": "MATN2",
"hgvs_c": "c.2350G>A",
"hgvs_p": "p.Glu784Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304677.1",
"strand": true,
"transcript": "NM_001317748.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 915,
"aa_ref": "E",
"aa_start": 784,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3496,
"cdna_start": 2599,
"cds_end": null,
"cds_length": 2748,
"cds_start": 2350,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000896680.1",
"gene_hgnc_id": 6908,
"gene_symbol": "MATN2",
"hgvs_c": "c.2350G>A",
"hgvs_p": "p.Glu784Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566739.1",
"strand": true,
"transcript": "ENST00000896680.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 915,
"aa_ref": "E",
"aa_start": 784,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3466,
"cdna_start": 2561,
"cds_end": null,
"cds_length": 2748,
"cds_start": 2350,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000896684.1",
"gene_hgnc_id": 6908,
"gene_symbol": "MATN2",
"hgvs_c": "c.2350G>A",
"hgvs_p": "p.Glu784Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566743.1",
"strand": true,
"transcript": "ENST00000896684.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 915,
"aa_ref": "E",
"aa_start": 784,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3479,
"cdna_start": 2579,
"cds_end": null,
"cds_length": 2748,
"cds_start": 2350,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000945051.1",
"gene_hgnc_id": 6908,
"gene_symbol": "MATN2",
"hgvs_c": "c.2350G>A",
"hgvs_p": "p.Glu784Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615110.1",
"strand": true,
"transcript": "ENST00000945051.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 913,
"aa_ref": "E",
"aa_start": 825,
"biotype": "protein_coding",
"canonical": false,
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