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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: 7-76048186-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=76048186&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 76048186,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005918.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDH2",
"gene_hgnc_id": 6971,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "NM_005918.4",
"protein_id": "NP_005909.2",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 338,
"cds_start": 26,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000315758.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005918.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDH2",
"gene_hgnc_id": 6971,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "ENST00000315758.10",
"protein_id": "ENSP00000327070.5",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 338,
"cds_start": 26,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005918.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315758.10"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDH2",
"gene_hgnc_id": 6971,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "ENST00000971443.1",
"protein_id": "ENSP00000641502.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 360,
"cds_start": 26,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971443.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDH2",
"gene_hgnc_id": 6971,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "ENST00000854579.1",
"protein_id": "ENSP00000524638.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 336,
"cds_start": 26,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854579.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDH2",
"gene_hgnc_id": 6971,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "ENST00000930051.1",
"protein_id": "ENSP00000600110.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 334,
"cds_start": 26,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930051.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDH2",
"gene_hgnc_id": 6971,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "ENST00000854580.1",
"protein_id": "ENSP00000524639.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 329,
"cds_start": 26,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854580.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDH2",
"gene_hgnc_id": 6971,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "ENST00000854581.1",
"protein_id": "ENSP00000524640.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 312,
"cds_start": 26,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854581.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDH2",
"gene_hgnc_id": 6971,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "NM_001282403.2",
"protein_id": "NP_001269332.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 296,
"cds_start": 26,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282403.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDH2",
"gene_hgnc_id": 6971,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "ENST00000432020.2",
"protein_id": "ENSP00000408649.2",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 296,
"cds_start": 26,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432020.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDH2",
"gene_hgnc_id": 6971,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "ENST00000930052.1",
"protein_id": "ENSP00000600111.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 244,
"cds_start": 26,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930052.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDH2",
"gene_hgnc_id": 6971,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "ENST00000854578.1",
"protein_id": "ENSP00000524637.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 230,
"cds_start": 26,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854578.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDH2",
"gene_hgnc_id": 6971,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "ENST00000930053.1",
"protein_id": "ENSP00000600112.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 217,
"cds_start": 26,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930053.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDH2",
"gene_hgnc_id": 6971,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ala9Val",
"transcript": "ENST00000461263.2",
"protein_id": "ENSP00000475583.1",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 28,
"cds_start": 26,
"cds_end": null,
"cds_length": 87,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461263.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDH2",
"gene_hgnc_id": 6971,
"hgvs_c": "c.-127C>T",
"hgvs_p": null,
"transcript": "NM_001282404.2",
"protein_id": "NP_001269333.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": null,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282404.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDH2",
"gene_hgnc_id": 6971,
"hgvs_c": "c.-127C>T",
"hgvs_p": null,
"transcript": "ENST00000443006.5",
"protein_id": "ENSP00000416929.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": null,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443006.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STYXL1",
"gene_hgnc_id": 18165,
"hgvs_c": "c.-2+376G>A",
"hgvs_p": null,
"transcript": "ENST00000929929.1",
"protein_id": "ENSP00000599988.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929929.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STYXL1",
"gene_hgnc_id": 18165,
"hgvs_c": "c.-5+376G>A",
"hgvs_p": null,
"transcript": "ENST00000971319.1",
"protein_id": "ENSP00000641378.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971319.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDH2",
"gene_hgnc_id": 6971,
"hgvs_c": "n.51C>T",
"hgvs_p": null,
"transcript": "ENST00000461665.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000461665.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDH2",
"gene_hgnc_id": 6971,
"hgvs_c": "n.26C>T",
"hgvs_p": null,
"transcript": "ENST00000490105.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000490105.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDH2",
"gene_hgnc_id": 6971,
"hgvs_c": "n.81C>T",
"hgvs_p": null,
"transcript": "NR_104165.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_104165.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STYXL1",
"gene_hgnc_id": 18165,
"hgvs_c": "c.-529G>A",
"hgvs_p": null,
"transcript": "NM_001317785.2",
"protein_id": "NP_001304714.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359697.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317785.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STYXL1",
"gene_hgnc_id": 18165,
"hgvs_c": "c.-529G>A",
"hgvs_p": null,
"transcript": "ENST00000359697.8",
"protein_id": "ENSP00000352726.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001317785.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359697.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
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}
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}