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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: 5-7873452-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=7873452&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 7873452,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002454.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Arg70Leu",
"transcript": "NM_002454.3",
"protein_id": "NP_002445.2",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 698,
"cds_start": 209,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": "ENST00000440940.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002454.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Arg70Leu",
"transcript": "ENST00000440940.7",
"protein_id": "ENSP00000402510.2",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 698,
"cds_start": 209,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": "NM_002454.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440940.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.290G>T",
"hgvs_p": "p.Arg97Leu",
"transcript": "ENST00000264668.6",
"protein_id": "ENSP00000264668.2",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 725,
"cds_start": 290,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 3274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264668.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "n.209G>T",
"hgvs_p": null,
"transcript": "ENST00000513439.5",
"protein_id": "ENSP00000426710.1",
"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": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000513439.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Arg70Leu",
"transcript": "ENST00000869932.1",
"protein_id": "ENSP00000539991.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 706,
"cds_start": 209,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 2198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869932.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Arg70Leu",
"transcript": "NM_001364440.2",
"protein_id": "NP_001351369.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 698,
"cds_start": 209,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 4086,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364440.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Arg70Leu",
"transcript": "NM_001364441.2",
"protein_id": "NP_001351370.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 698,
"cds_start": 209,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 3748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364441.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Arg70Leu",
"transcript": "NM_001364442.2",
"protein_id": "NP_001351371.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 698,
"cds_start": 209,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 3328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364442.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Arg70Leu",
"transcript": "NM_024010.4",
"protein_id": "NP_076915.3",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 698,
"cds_start": 209,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 3219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024010.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Arg70Leu",
"transcript": "ENST00000869929.1",
"protein_id": "ENSP00000539988.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 698,
"cds_start": 209,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 3299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869929.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Arg70Leu",
"transcript": "ENST00000869930.1",
"protein_id": "ENSP00000539989.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 698,
"cds_start": 209,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1831,
"cdna_end": null,
"cdna_length": 4790,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869930.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Arg70Leu",
"transcript": "ENST00000869931.1",
"protein_id": "ENSP00000539990.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 698,
"cds_start": 209,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 3387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869931.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Arg70Leu",
"transcript": "ENST00000924322.1",
"protein_id": "ENSP00000594381.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 698,
"cds_start": 209,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924322.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Arg70Leu",
"transcript": "ENST00000941610.1",
"protein_id": "ENSP00000611669.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 698,
"cds_start": 209,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 3363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941610.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Arg70Leu",
"transcript": "ENST00000941611.1",
"protein_id": "ENSP00000611670.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 698,
"cds_start": 209,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 3846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941611.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Arg70Leu",
"transcript": "ENST00000924323.1",
"protein_id": "ENSP00000594382.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 697,
"cds_start": 209,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924323.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Arg70Leu",
"transcript": "ENST00000941608.1",
"protein_id": "ENSP00000611667.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 697,
"cds_start": 209,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 3223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941608.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Arg70Leu",
"transcript": "ENST00000941609.1",
"protein_id": "ENSP00000611668.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 697,
"cds_start": 209,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 3221,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941609.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Arg70Leu",
"transcript": "ENST00000924324.1",
"protein_id": "ENSP00000594383.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 608,
"cds_start": 209,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 2931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924324.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Arg70Leu",
"transcript": "ENST00000502550.5",
"protein_id": "ENSP00000424599.1",
"transcript_support_level": 4,
"aa_start": 70,
"aa_end": null,
"aa_length": 155,
"cds_start": 209,
"cds_end": null,
"cds_length": 470,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502550.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Arg70Leu",
"transcript": "ENST00000512217.5",
"protein_id": "ENSP00000421318.1",
"transcript_support_level": 4,
"aa_start": 70,
"aa_end": null,
"aa_length": 111,
"cds_start": 209,
"cds_end": null,
"cds_length": 336,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512217.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Arg70Leu",
"transcript": "XM_024446064.2",
"protein_id": "XP_024301832.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 698,
"cds_start": 209,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1174,
"cdna_end": null,
"cdna_length": 4117,
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}
],
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}