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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: 8-98027434-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=98027434&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 98027434,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002380.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.1961T>C",
"hgvs_p": "p.Ile654Thr",
"transcript": "NM_002380.5",
"protein_id": "NP_002371.3",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 956,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 2211,
"cdna_end": null,
"cdna_length": 4133,
"mane_select": "ENST00000254898.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002380.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.1961T>C",
"hgvs_p": "p.Ile654Thr",
"transcript": "ENST00000254898.7",
"protein_id": "ENSP00000254898.6",
"transcript_support_level": 1,
"aa_start": 654,
"aa_end": null,
"aa_length": 956,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 2211,
"cdna_end": null,
"cdna_length": 4133,
"mane_select": "NM_002380.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254898.7"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.1961T>C",
"hgvs_p": "p.Ile654Thr",
"transcript": "ENST00000520016.5",
"protein_id": "ENSP00000430487.1",
"transcript_support_level": 1,
"aa_start": 654,
"aa_end": null,
"aa_length": 956,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 2085,
"cdna_end": null,
"cdna_length": 3495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520016.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.1961T>C",
"hgvs_p": "p.Ile654Thr",
"transcript": "ENST00000521689.5",
"protein_id": "ENSP00000429977.1",
"transcript_support_level": 1,
"aa_start": 654,
"aa_end": null,
"aa_length": 937,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 2435,
"cdna_end": null,
"cdna_length": 3554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521689.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.1838T>C",
"hgvs_p": "p.Ile613Thr",
"transcript": "ENST00000524308.5",
"protein_id": "ENSP00000430221.1",
"transcript_support_level": 1,
"aa_start": 613,
"aa_end": null,
"aa_length": 915,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2041,
"cdna_end": null,
"cdna_length": 3449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524308.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.1307T>C",
"hgvs_p": "p.Ile436Thr",
"transcript": "ENST00000518154.5",
"protein_id": "ENSP00000429622.1",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 719,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518154.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.1109T>C",
"hgvs_p": "p.Ile370Thr",
"transcript": "ENST00000522025.6",
"protein_id": "ENSP00000429010.1",
"transcript_support_level": 5,
"aa_start": 370,
"aa_end": null,
"aa_length": 672,
"cds_start": 1109,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522025.6"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPL30",
"gene_hgnc_id": 10333,
"hgvs_c": "n.241-1696A>G",
"hgvs_p": null,
"transcript": "ENST00000518164.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1128,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000518164.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "n.*25-3028T>C",
"hgvs_p": null,
"transcript": "ENST00000521952.5",
"protein_id": "ENSP00000429256.1",
"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": 997,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000521952.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.2225T>C",
"hgvs_p": "p.Ile742Thr",
"transcript": "ENST00000945057.1",
"protein_id": "ENSP00000615116.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2225,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 2430,
"cdna_end": null,
"cdna_length": 3846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945057.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.2225T>C",
"hgvs_p": "p.Ile742Thr",
"transcript": "ENST00000945049.1",
"protein_id": "ENSP00000615108.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2225,
"cds_end": null,
"cds_length": 3078,
"cdna_start": 2461,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945049.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.1961T>C",
"hgvs_p": "p.Ile654Thr",
"transcript": "ENST00000896681.1",
"protein_id": "ENSP00000566740.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 967,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 2193,
"cdna_end": null,
"cdna_length": 3641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896681.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.1961T>C",
"hgvs_p": "p.Ile654Thr",
"transcript": "ENST00000945056.1",
"protein_id": "ENSP00000615115.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 956,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 2534,
"cdna_end": null,
"cdna_length": 3942,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945056.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.1961T>C",
"hgvs_p": "p.Ile654Thr",
"transcript": "NM_030583.4",
"protein_id": "NP_085072.2",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 937,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 2211,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030583.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.1961T>C",
"hgvs_p": "p.Ile654Thr",
"transcript": "ENST00000896679.1",
"protein_id": "ENSP00000566738.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 932,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 2205,
"cdna_end": null,
"cdna_length": 3550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896679.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.1838T>C",
"hgvs_p": "p.Ile613Thr",
"transcript": "NM_001317748.2",
"protein_id": "NP_001304677.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 915,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2088,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317748.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.1838T>C",
"hgvs_p": "p.Ile613Thr",
"transcript": "ENST00000896680.1",
"protein_id": "ENSP00000566739.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 915,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2087,
"cdna_end": null,
"cdna_length": 3496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896680.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.1838T>C",
"hgvs_p": "p.Ile613Thr",
"transcript": "ENST00000896684.1",
"protein_id": "ENSP00000566743.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 915,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2049,
"cdna_end": null,
"cdna_length": 3466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896684.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.1838T>C",
"hgvs_p": "p.Ile613Thr",
"transcript": "ENST00000945051.1",
"protein_id": "ENSP00000615110.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 915,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2067,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945051.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.1961T>C",
"hgvs_p": "p.Ile654Thr",
"transcript": "ENST00000896683.1",
"protein_id": "ENSP00000566742.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 913,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896683.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.1838T>C",
"hgvs_p": "p.Ile613Thr",
"transcript": "ENST00000896676.1",
"protein_id": "ENSP00000566735.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 896,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 2088,
"cdna_end": null,
"cdna_length": 3953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896676.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.1838T>C",
"hgvs_p": "p.Ile613Thr",
"transcript": "ENST00000896682.1",
"protein_id": "ENSP00000566741.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 896,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}