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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: 8-98033137-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=98033137&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 98033137,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002380.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.2677C>T",
"hgvs_p": "p.Arg893Trp",
"transcript": "NM_002380.5",
"protein_id": "NP_002371.3",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 956,
"cds_start": 2677,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000254898.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002380.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.2677C>T",
"hgvs_p": "p.Arg893Trp",
"transcript": "ENST00000254898.7",
"protein_id": "ENSP00000254898.6",
"transcript_support_level": 1,
"aa_start": 893,
"aa_end": null,
"aa_length": 956,
"cds_start": 2677,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002380.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254898.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.2677C>T",
"hgvs_p": "p.Arg893Trp",
"transcript": "ENST00000520016.5",
"protein_id": "ENSP00000430487.1",
"transcript_support_level": 1,
"aa_start": 893,
"aa_end": null,
"aa_length": 956,
"cds_start": 2677,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520016.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.2620C>T",
"hgvs_p": "p.Arg874Trp",
"transcript": "ENST00000521689.5",
"protein_id": "ENSP00000429977.1",
"transcript_support_level": 1,
"aa_start": 874,
"aa_end": null,
"aa_length": 937,
"cds_start": 2620,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521689.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.2554C>T",
"hgvs_p": "p.Arg852Trp",
"transcript": "ENST00000524308.5",
"protein_id": "ENSP00000430221.1",
"transcript_support_level": 1,
"aa_start": 852,
"aa_end": null,
"aa_length": 915,
"cds_start": 2554,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524308.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.1966C>T",
"hgvs_p": "p.Arg656Trp",
"transcript": "ENST00000518154.5",
"protein_id": "ENSP00000429622.1",
"transcript_support_level": 1,
"aa_start": 656,
"aa_end": null,
"aa_length": 719,
"cds_start": 1966,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518154.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.1825C>T",
"hgvs_p": "p.Arg609Trp",
"transcript": "ENST00000522025.6",
"protein_id": "ENSP00000429010.1",
"transcript_support_level": 5,
"aa_start": 609,
"aa_end": null,
"aa_length": 672,
"cds_start": 1825,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522025.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "n.*345C>T",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000521952.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "n.*345C>T",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000521952.5"
},
{
"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.241-7399G>A",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000518164.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.2941C>T",
"hgvs_p": "p.Arg981Trp",
"transcript": "ENST00000945057.1",
"protein_id": "ENSP00000615116.1",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2941,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945057.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.2884C>T",
"hgvs_p": "p.Arg962Trp",
"transcript": "ENST00000945049.1",
"protein_id": "ENSP00000615108.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2884,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945049.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.2710C>T",
"hgvs_p": "p.Arg904Trp",
"transcript": "ENST00000896681.1",
"protein_id": "ENSP00000566740.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 967,
"cds_start": 2710,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896681.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.2677C>T",
"hgvs_p": "p.Arg893Trp",
"transcript": "ENST00000945056.1",
"protein_id": "ENSP00000615115.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 956,
"cds_start": 2677,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945056.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.2620C>T",
"hgvs_p": "p.Arg874Trp",
"transcript": "NM_030583.4",
"protein_id": "NP_085072.2",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 937,
"cds_start": 2620,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030583.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.2605C>T",
"hgvs_p": "p.Arg869Trp",
"transcript": "ENST00000896679.1",
"protein_id": "ENSP00000566738.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 932,
"cds_start": 2605,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896679.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.2554C>T",
"hgvs_p": "p.Arg852Trp",
"transcript": "NM_001317748.2",
"protein_id": "NP_001304677.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 915,
"cds_start": 2554,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317748.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.2554C>T",
"hgvs_p": "p.Arg852Trp",
"transcript": "ENST00000896680.1",
"protein_id": "ENSP00000566739.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 915,
"cds_start": 2554,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896680.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.2554C>T",
"hgvs_p": "p.Arg852Trp",
"transcript": "ENST00000896684.1",
"protein_id": "ENSP00000566743.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 915,
"cds_start": 2554,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896684.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.2554C>T",
"hgvs_p": "p.Arg852Trp",
"transcript": "ENST00000945051.1",
"protein_id": "ENSP00000615110.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 915,
"cds_start": 2554,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945051.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.2548C>T",
"hgvs_p": "p.Arg850Trp",
"transcript": "ENST00000896683.1",
"protein_id": "ENSP00000566742.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 913,
"cds_start": 2548,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896683.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATN2",
"gene_hgnc_id": 6908,
"hgvs_c": "c.2497C>T",
"hgvs_p": "p.Arg833Trp",
"transcript": "ENST00000896676.1",
"protein_id": "ENSP00000566735.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 896,
"cds_start": 2497,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
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"phenotype_combined": "not specified",
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}
],
"message": null
}